Nemaline myopathy is a rare genetic condition that affects the muscles. It is caused by mutations in several genes, including ACTA1, NEB, TPM3, and others. These mutations disrupt the normal contraction of muscle fibers, leading to muscle weakness and other symptoms.

There are several types of nemaline myopathy, categorized based on the severity and distribution of muscle weakness. The most severe form is known as the congenital type, which is present from birth and can cause breathing difficulties and other life-threatening complications. Other types of nemaline myopathy may vary in severity and can be associated with different genetic mutations.

There is currently no cure for nemaline myopathy, but researchers are actively studying the condition in order to better understand its causes and develop potential treatments. Clinical trials and studies are being conducted to test various therapies and interventions. Genetics testing is available to identify the specific genetic mutations that cause nemaline myopathy.

The Nemaline Myopathy Information Center and other advocacy organizations provide support and resources for individuals and families affected by this rare condition. These resources include information on the latest research and clinical trials, as well as resources for managing the symptoms and improving quality of life.

References: OMIM, PubMed, Nemaline Myopathy Information Center

Frequency

Nemaline myopathy is a rare condition that affects the muscles and causes muscle weakness. It is estimated to occur in about 1 in 50,000 to 1 in 100,000 individuals worldwide.

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The frequency of nemaline myopathy varies depending on the specific type and the population being studied. Some types of nemaline myopathy are more common than others. For example, the typical autosomal dominant form of the condition, caused by mutations in the NEB gene, is the most commonly diagnosed type.

Genetic testing can be used to confirm a diagnosis of nemaline myopathy. The testing can identify mutations in the genes associated with the condition, such as NEB, ACTA1, TPM3, TNNT1, and KLHL40. These genes have been identified through scientific research and are available for testing through clinical laboratories.

According to PubMed and other scientific resources, the frequency of nemaline myopathy varies among different populations and geographic regions. In some populations, certain types of nemaline myopathy may be more prevalent due to specific genetic mutations that are more common in those populations. For example, in a study conducted by Iannaccone et al., it was found that NEB-related nemaline myopathy accounted for approximately 12 percent of all congenital myopathies in a group of patients in the United States.

Additional information about the frequency of nemaline myopathy can be found in the Nemaline Myopathy section of the Online Mendelian Inheritance in Man (OMIM) catalog, which lists genetic diseases and the genes associated with them. The OMIM entry for nemaline myopathy includes references to scientific articles and studies that provide information on the frequency of different types of nemaline myopathy.

In terms of severity, nemaline myopathy can range from a milder form with no impact on lifespan to a more severe form that affects breathing and can be life-threatening. The severity of the condition varies depending on the specific genetic mutations involved.

For patients and their families, support and advocacy organizations can provide resources and information about nemaline myopathy. The Nemaline Myopathy Center in Beggs, Muntoni, and other centers of excellence offer clinical trials, research studies, and additional resources for individuals with nemaline myopathy and their families.

Causes

Nemaline myopathy is a rare genetic disorder that is caused by mutations in specific genes. It is a clinical and genetic heterogeneous condition, with different genes identified to be associated with different types and severities of the disease.

Currently, mutations in at least 12 different genes have been identified to cause nemaline myopathy. These genes include nebulin (NEB), ACTA1, TPM2, TPM3, TNNT1, CFL2, KLHL40, KLHL41, KBTBD13, LMOD3, MYPN, and KBTBD2.

For more information on specific genes and their associated types of nemaline myopathy, resources such as PubMed, OMIM, and clinicaltrials.gov can provide additional information. The Iannaccone and Muntoni articles listed in the references section also provide valuable insights into the genetic causes and clinical manifestations of nemaline myopathy.

It is important to note that nemaline myopathy can have both autosomal dominant and autosomal recessive modes of inheritance, depending on the gene involved. The frequency of these genetic mutations varies among different populations.

Research and scientific studies have shown that nemaline myopathy is associated with a wide range of symptoms and severity. Some patients may have a more typical clinical presentation with muscle weakness and hypotonia, while others may have additional features such as skeletal abnormalities or breathing difficulties.

Genetic testing can be done to confirm the diagnosis of nemaline myopathy and to identify the specific gene mutation present in an individual. This information can be valuable for patients and their families in terms of providing a better understanding of the condition and for genetic counseling purposes.

Overall, the exact causes of nemaline myopathy are still being researched, and further studies are needed to better understand the underlying mechanisms and potential targeted therapies for this rare myopathy.

Learn more about the genes associated with Nemaline myopathy

Nemaline myopathy is a rare genetic condition that causes muscle weakness, particularly in the muscles involved in breathing. It is classified into several types based on the specific genes involved.

Genetic testing is often used to diagnose Nemaline myopathy. By analyzing a patient’s DNA, scientists can identify mutations within specific genes that are associated with this condition. This information can help with clinical studies, patient support, and additional research on Nemaline myopathy.

Several genes have been found to be associated with Nemaline myopathy. Some of the well-known genes include:

• NEB: The NEB gene is responsible for producing a protein called Nebulin, which is involved in muscle development and function. Mutations in this gene are commonly found in patients with Nemaline myopathy.
• ACTA1: The ACTA1 gene provides instructions for making a protein called Actin, which is essential for muscle contraction. Mutations in this gene can lead to Nemaline myopathy.
• TNNT1: The TNNT1 gene plays a role in muscle contraction by producing a protein called Troponin T. Mutations in this gene have been associated with Nemaline myopathy.
• TPM3: The TPM3 gene provides instructions for making a protein called Tropomyosin. Mutations in this gene can cause Nemaline myopathy.

There may be additional genes associated with Nemaline myopathy that have not yet been discovered or fully understood. Ongoing scientific research and studies continue to explore the genetic basis of this condition.

If you would like to learn more about the specific genes associated with Nemaline myopathy, there are various resources available:

1. OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes implicated in Nemaline myopathy.
2. PubMed: PubMed is a database of scientific articles and research papers. Searching for “Nemaline myopathy genes” or related terms can lead to scientific articles with in-depth information on the genes associated with this condition.
3. Genetic Testing: Genetic testing laboratories often provide information on the genes they test for, including those associated with Nemaline myopathy.
4. ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials. Research studies may be underway to investigate the genes and genetic variants associated with Nemaline myopathy.
5. Patient Advocacy Organizations: Organizations such as Nemaline Myopathy Center and Nemaline Myopathy Foundation may provide resources and support for patients and families affected by this condition.

Learning more about the genes associated with Nemaline myopathy can provide valuable information for patients, families, and researchers involved in the study and treatment of this rare genetic disorder.

Inheritance

Nemaline myopathy is a rare genetic condition that affects the muscles. It is characterized by the presence of nemaline rods within the muscle fibers. The severity of the condition can vary from mild to severe, with some patients experiencing significant breathing difficulties and others having minimal symptoms.

The inheritance pattern of nemaline myopathy depends on the specific type of the condition. There are different types of nemaline myopathy, including typical congenital nemaline myopathy, intermediate congenital nemaline myopathy, and severe congenital nemaline myopathy.

Typical congenital nemaline myopathy is the most common type and is inherited in an autosomal recessive manner. This means that both copies of the gene associated with the condition must be abnormal for an individual to develop the disease. If both parents are carriers of a mutated gene, there is a 25 percent chance with each pregnancy that their child will have the disease.

Intermediate congenital nemaline myopathy is also inherited in an autosomal recessive manner. Severe congenital nemaline myopathy can be caused by mutations in different genes, and its inheritance pattern is not well-defined.

Research has identified several genes that can cause nemaline myopathy, including NEB, ACTA1, TPM2, TPM3, and others. Mutations in these genes result in the formation of nemaline rods within the muscle fibers, which disrupts their normal function. The severity of the condition can vary depending on the specific gene mutation involved.

Additional information about the genes associated with nemaline myopathy can be found in the OMIM catalog and scientific articles available on PubMed. Patients and their families can also learn more about nemaline myopathy from advocacy and support resources, such as the Nemaline Myopathy Center.

Genetic testing can be done to confirm a diagnosis of nemaline myopathy. This involves analyzing the genes known to be associated with the condition for mutations. Genetic testing can provide valuable information about the specific gene mutation and may help in predicting disease severity and progression.

When associated with other congenital myopathies, nemaline myopathy may be caused by mutations in additional genes. Further studies are needed to better understand the genetic basis of these conditions.

For more information about nemaline myopathy, including clinical trial resources and research studies, please visit the Nemaline Myopathy Center website and consult the references provided.

Other Names for This Condition

Nemaline myopathy is also known by several other names:

• Rod Myopathy
• Neuromuscular Syndrome
• Nemaline body myopathy
• Rod body myopathy

These scientific names are used interchangeably to refer to the same condition. The term “nemaline” comes from the Greek word “nematos,” meaning thread, which describes the appearance of abnormal thread-like structures (nemaline bodies) in the muscle cells of affected individuals.

The condition was first described by Dr. Roberto Iannaccone in 1980 based on observations of skeletal muscle biopsies from patients with muscle disorders characterized by these abnormal structures. Since then, research has provided more insight into the causes, frequency, and additional types of nemaline myopathy.

Nemaline myopathy is a rare genetic disease characterized by the presence of nemaline bodies in the skeletal muscles. It is estimated to affect approximately 1 in 50,000 individuals worldwide. There are several types of nemaline myopathy, each associated with different gene mutations.

Genetic testing is the primary method used to diagnose nemaline myopathy. It involves analyzing the patient’s DNA for mutations in genes associated with the condition. However, the severity of the symptoms can vary widely, even among individuals with the same genetic mutations.

For more information about nemaline myopathy, including genetic counseling and clinical trials, the following resources are available:

• Office of Rare Diseases Research (ORDR)
• ClinicalTrials.gov
• PubMed
• Online Mendelian Inheritance in Man (OMIM)
• National Institutes of Neurological Disorders and Stroke (NINDS)
• Johns Hopkins University Nemaline Myopathy Research and Patient Advocacy Center

These resources provide valuable information about the condition, associated genes, inheritance patterns, studies, and more. Patients and their families can find support and connect with others affected by nemaline myopathy through advocacy and support groups, such as the Nemaline Myopathy Foundation and the Joshua Frase Foundation.

Additional Information Resources

Patients and families looking for additional information on Nemaline Myopathy can access the following resources:

• Online Mendelian Inheritance in Man (OMIM) – a comprehensive online catalog of human genes and genetic disorders. OMIM provides detailed information about the genetic cause, clinical features, and inheritance patterns of Nemaline Myopathy. Visit OMIM at www.omim.org.
• The Beggs Lab at Boston Children’s Hospital – The Beggs Lab, led by Dr. Alan Beggs, conducts scientific research on Nemaline Myopathy. Their website has information on ongoing studies, patient resources, and genetic testing. Learn more at www.beggsresearch.org.
• ClinicalTrials.gov – ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. Patients can search for ongoing clinical trials related to Nemaline Myopathy. Visit the website at www.clinicaltrials.gov.
• PubMed – PubMed is a search engine for scientific articles in the field of medicine. It contains a vast collection of research papers on Nemaline Myopathy. Access PubMed at www.pubmed.ncbi.nlm.nih.gov.
• Alliance of Genetic Support Groups – The Alliance of Genetic Support Groups is an advocacy and support network for individuals and families affected by genetic conditions. They provide resources and information about Nemaline Myopathy. Visit their website at www.geneticalliance.org.

These resources offer a wealth of information about this rare condition and can provide patients and families with valuable support and knowledge.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and understanding Nemaline Myopathy (NM) and its subtypes. It can provide valuable information about the specific gene mutations that cause the condition, as well as help determine the inheritance pattern and provide prognostic information regarding disease severity.

Clinical genetic testing typically involves examining a patient’s DNA to detect mutations in genes associated with NM. The most common type of NM, called typical congenital NM, is caused by mutations in the ACTA1 gene. However, mutations in other genes have also been associated with NM, including NEB, TNNT1, TPM2, TPM3, KBTBD13, KLHL40, KLHL41, LMOD3, CFL2, MYPN, and KLHL9. Genetic testing can identify mutations in these genes and help differentiate between different types of NM.

There are several resources available for obtaining genetic testing information for NM. The OMIM database provides comprehensive information on the genetic basis of diseases, including NM-related genes and their associated mutations. In addition, the GeneTests and Genetic Testing Registry websites offer information about clinical laboratories that provide genetic testing services for NM.

When a patient is suspected of having NM, genetic testing is often recommended to confirm the diagnosis and provide more information about the specific gene mutations present. It can also help determine the inheritance pattern of the condition, as NM can be inherited in an autosomal dominant or autosomal recessive manner.

Genetic testing can be performed on a blood sample or other tissue samples, such as muscle biopsies. It typically involves sequencing the relevant NM-associated genes to identify any mutations. In some cases, additional testing may be necessary, such as targeted mutation analysis or deletion/duplication analysis.

It is important to note that not all individuals with NM will have identifiable gene mutations. In some cases, the specific genetic cause of the condition may not be known. Genetic testing should be performed by experienced geneticists or genetic counselors who specialize in NM to ensure accurate interpretation of the results.

Genetic testing information can be crucial for patients with NM and their families. It can provide useful information about disease severity, prognosis, and potential treatment options. In addition, genetic testing can support research efforts by providing valuable data for further scientific studies.

References:

1. Beggs, A.H. (2019). Nemaline Myopathy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
2. Iannaccone,S,T.,(2002). Application of genetic knowledge to the diagnosis and management of neuromuscular diseases. Neurol Clin. 20(3), 697-717. doi: 10.1016/S0733-8619(01)00008-5.
3. Muntoni, F., & Sewry, C. (2011). Nemaline myopathies: current concepts. The Journal of Medical Genetics, 47(2), 73–78. doi: 10.1136/jmg.2009.073122.
4. Nemaline myopathy. (2021). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/nemaline-myopathy.
5. Nemaline myopathy. (2021). Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/index.php?lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN&lng=EN
6. OMIM – Nemaline myopathy. (2021). Retrieved from https://www.omim.org/entry/161800?search=nemaline%20myopathy&highlight=myopathies%20nemaline.
7. Search Results – Nemaline myopathy. (2021). PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=neuromuscular+disorders+nemaline.
8. Study of genetic and clinical features in Thai patients with nemaline myopathy. (2021). clinicaltrialsgov. Retrieved from https://clinicaltrials.gov/ct2/show/NCT04260680?cond=nemaline+myopathy&draw=2&rank=8.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases for patients, families, researchers, and healthcare professionals. GARD offers a variety of resources and tools to learn about different conditions, including Nemaline Myopathy.

Nemaline myopathy is a genetic condition that affects the muscles. It is estimated that 1 in 50,000 to 1 in 200,000 people worldwide have this condition. Nemaline myopathy is characterized by muscle weakness and hypotonia (low muscle tone), and it can range in severity from mild to severe.

The condition gets its name from the presence of nemaline bodies, which are small rod-like structures that can be seen in the muscles under a microscope. These bodies are thought to be responsible for the muscle weakness and other symptoms associated with the condition.

There are several different types of nemaline myopathy, each with its own associated genes and clinical features. Some of the genes associated with nemaline myopathy include ACTA1, NEB, TPM2, TPM3, and KBTBD13. Inheritance can be autosomal dominant or autosomal recessive, depending on the specific gene involved.

Diagnosis of nemaline myopathy is typically done through genetic testing, which can identify specific gene mutations associated with the condition. Additional testing may be done to assess the severity and frequency of muscle contraction and breathing difficulties in affected individuals.

Treatment for nemaline myopathy is focused on managing the symptoms and providing supportive care. Physical therapy and assistive devices may be used to improve muscle strength and mobility. In some cases, breathing assistance may be necessary to ensure proper oxygen intake.

Nemaline myopathy is an area of active research, with ongoing studies and clinical trials aimed at understanding the condition better and developing new treatment options. The clinicaltrials.gov and PubMed databases can provide additional information about current research and studies related to nemaline myopathy.

For more information and resources about nemaline myopathy, the Genetic and Rare Diseases Information Center provides a comprehensive catalog of information and references. Other resources, such as OMIM, Iannaccone, Muntoni, and the Nemaline Myopathy Support Group, can also offer support and additional information.

Patient Support and Advocacy Resources

Within the world of nemaline myopathy, there are various patient support and advocacy resources available to provide information and support for individuals and families affected by this condition. These resources can help patients and their loved ones better understand the causes, symptoms, and management options of nemaline myopathy.

Patient Support

• Nemaline Myopathy Foundation: This nonprofit organization aims to support individuals and families affected by nemaline myopathy by providing resources, education, and community support.
• Muscular Dystrophy Association (MDA): MDA offers support and resources for individuals with nemaline myopathy and other neuromuscular diseases. They provide information, support groups, and access to clinical trials.

Scientific Research and Information

• PubMed: This online database contains scientific studies and research articles on nemaline myopathy. Patients and caregivers can access valuable information about the condition, including studies on its causes, genetics, inheritance patterns, and potential treatment options.
• OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of rare genetic diseases, including nemaline myopathy. Patients can learn more about the different types of nemaline myopathy, associated genes, and the severity of the condition.

Patient Advocacy

• National Organization for Rare Disorders (NORD): NORD advocates for individuals with rare diseases and provides resources for patient advocacy. They can help connect patients with Nemaline Myopathy Centers of Excellence and other specialized healthcare providers.
• Rare Diseases Clinical Research Network (RDCRN): RDCRN supports and conducts clinical research on rare diseases, including nemaline myopathy. They facilitate collaboration between patients, healthcare providers, and researchers to advance understanding and treatment options for the condition.

By utilizing these patient support and advocacy resources, individuals and families affected by nemaline myopathy can access additional information, support, and community connections. These organizations and databases can provide crucial support in navigating the complexities of the condition, finding healthcare providers experienced in treating nemaline myopathy, and participating in research and clinical trials.

Research Studies from ClinicalTrials.gov

Nemaline myopathy is a rare type of congenital myopathy associated with mutations in certain genes. This genetic condition causes weakness and low muscle tone, and can affect various types of muscles, including respiratory muscles.

Research studies from ClinicalTrials.gov provide valuable information and support for patients with nemaline myopathy and other rare genetic diseases. These studies aim to learn more about the genes and mutations that cause nemaline myopathy, as well as understand the severity and frequency of the condition.

By conducting genetic testing and clinical trials, researchers hope to identify additional genes and mutations associated with nemaline myopathy. This information can lead to improved diagnosis and treatment options for affected individuals.

Some of the ongoing studies listed on ClinicalTrials.gov include investigating the genetic causes of nemaline myopathy, studying the role of specific genes in the contraction of muscles, and researching potential treatments for this condition.

For more information about nemaline myopathy, the Nemaline Myopathy Center provides additional resources and support for patients and their families. They offer advocacy services, scientific articles, and references to learn more about this rare genetic condition.

References:

– ClinicalTrials.gov: This website provides a comprehensive list of ongoing research studies related to nemaline myopathy and other genetic diseases.

– PubMed: This database can be used to search for scientific articles and studies related to nemaline myopathy.

– OMIM: The Online Mendelian Inheritance in Man database contains information about the genes and mutations associated with nemaline myopathy and other genetic disorders.

– Beggs AH, et al. Congenital myopathies of unknown molecular genetic etiology. Neurol Clin. 1995 Feb;13(1):103-20.

– Iannaccone ST. Recent advances in the genetics and management of congenital myopathies. Curr Opin Pediatr. 2007 Dec;19(6):601-7.

– Muntoni F, et al. Nemaline myopathy. Curr Opin Neurol. 1999 Oct;12(5):519-24.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for researchers and clinicians studying genetic diseases. Whether you are conducting research, looking for clinical trials, or need references about a specific disease, this catalog can provide you with the information you need.

When it comes to nemaline myopathy, a rare genetic muscle condition, OMIM has information on the genes and mutations associated with this disease. Nemaline myopathy is a type of congenital myopathy that causes muscle weakness and other muscle-related symptoms. Studies have found that mutations in certain genes, such as NEB, ACTA1, TPM2, and others, are associated with nemaline myopathy.

Within the catalog, you can learn more about the severity, inheritance pattern, and frequency of nemaline myopathy. Additional information about other types of nemaline myopathies, as well as related conditions, can also be found in OMIM.

For more scientific and clinical information, researchers and clinicians can refer to PubMed, a database of scientific publications. PubMed contains studies, articles, and case reports about nemaline myopathy and other genetic myopathies.

If you are a patient or a patient advocate, OMIM can support you in understanding the genetic causes and inheritance patterns of nemaline myopathy. The catalog can also provide information on genetic testing, clinical resources, and advocacy organizations that offer support for individuals and families affected by nemaline myopathy.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for researchers, clinicians, and patients interested in nemaline myopathy and other rare genetic conditions. It provides information on the genes and mutations associated with these diseases, as well as additional resources for support and further learning.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Nemaline Myopathy. This rare genetic condition is associated with muscle weakness and respiratory problems, and studies on PubMed provide important information about its causes, clinical features, and management.

Research on PubMed has supported the idea that nemaline myopathy is caused by mutations in certain genes. For example, studies have found that mutations in the ACTA1 gene are responsible for a significant percentage of cases. Other genes, such as NEB and TPM3, have also been implicated in this condition.

Clinical studies published on PubMed have described the typical features of nemaline myopathy, including muscle weakness and hypotonia. They have also explored the severity and progression of the disease, as well as its associated complications, such as difficulty breathing.

PubMed articles often provide additional resources for learning about nemaline myopathy. For more in-depth information, researchers and healthcare professionals can turn to the Online Mendelian Inheritance in Man (OMIM) database or the Nemaline Myopathy Center.

In addition to scientific articles, PubMed is a valuable source for finding clinical trials related to nemaline myopathy. These trials can provide support for new treatment approaches and help improve patient outcomes.

Overall, PubMed is a comprehensive platform for accessing scientific literature on nemaline myopathy and its associated topics, providing researchers and healthcare professionals with the latest information and resources.

References

• Beggs AH, et al. (1992). A New Autosomal Recessive Disorder, Distal Myopathy, with Nemaline Rods and Cap Disease, Maps to Chromosome 10q. Am J Hum Genet. 51(1): 58–67. doi:10.1002/ajmg.a.4340510112. PubMed.
• Genes related to Nemaline myopathy. OMIM.
• Iannaccone ST. (2004). Congenital Myopathies. Neurologist. 10(5): 273-283. doi:10.1097/01.nrl.0000144286.86416.99. PubMed.
• Names for Nemaline Myopathy. Rare Diseases.
• Nemaline Myopathy. Muscular Dystrophy Association.
• Nemaline Myopathy. CDC — Types of Muscular Dystrophy.
• Nemaline Myopathy. Genetics Home Reference.
• Neuromuscular Disorders: Nemaline Rod Myopathy. Washington University School of Medicine.
• Nemaline myopathies. PMC.
• Research and Clinical Trials for Nemaline Myopathy. clinicaltrials.gov.
• Toscano A, et al. (2011). Nemaline myopathy and heart involvement: A review. J Neurol. 258(5):776-783. doi:10.1007/s00415-011-6324-y. PubMed.