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The DNM2 gene, also known as Dynamin-2, is responsible for encoding the Dynamin-2 protein. This protein plays a crucial role in various cellular processes, including endocytosis and membrane trafficking. Mutations or changes in the DNM2 gene can lead to a range of muscular disorders.

One of the main conditions associated with DNM2 gene mutations is centronuclear myopathy. This rare genetic disease is characterized by muscle weakness and delayed motor development. Centronuclear myopathy is part of a larger catalog of myopathies, which are disorders affecting the muscles.

Scientific and clinical information on the DNM2 gene and related diseases can be found in various resources, such as the OMIM database, PubMed citations, and articles in scientific journals. These resources provide comprehensive information on the genetic changes and their impact on health.

In addition to centronuclear myopathy, changes in the DNM2 gene have also been linked to other neuromuscular disorders, including Charcot-Marie-Tooth disease. Understanding the role of this gene in different diseases is important for diagnostic testing and genetic counseling.

Centronuclear myopathy and other related disorders are diagnosed through various tests, including genetic testing and muscle biopsy. The identification of DNM2 gene mutations can provide important insights into the underlying cause of these conditions and help guide treatment strategies.

In conclusion, the DNM2 gene is a key player in the development and function of muscles. Mutations or changes in this gene can lead to a range of myopathies and other neuromuscular disorders. Scientific and clinical information on the DNM2 gene and related diseases can be found in various resources and databases, providing valuable insights for researchers, clinicians, and patients.

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Genetic changes in the DNM2 gene can cause various health conditions that affect different aspects of an individual’s well-being.

One of the diseases associated with changes in the DNM2 gene is centronuclear myopathy. This rare genetic disorder affects the muscles and is characterized by muscle weakness and abnormal positioning of the nuclei within muscle cells.

Charcot-Marie-Tooth disease, another condition related to DNM2 gene changes, is a group of genetic disorders that affect the peripheral nerves. It leads to weakness and sensory abnormalities in the limbs.

Additional health conditions related to genetic changes in the DNM2 gene may also exist, as scientific research continues to uncover new information.

To learn more about these conditions and the genetic changes that cause them, it is advisable to consult reliable resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide comprehensive information on genetic disorders, including associated genes, clinical characteristics, and references to relevant articles.

For individuals seeking genetic testing, the DNM2 gene may be included in panel tests or specific tests for certain conditions. It is important to consult with healthcare professionals and genetic counselors to determine the appropriate testing options.

In conclusion, changes in the DNM2 gene can cause various health conditions, including centronuclear myopathy and Charcot-Marie-Tooth disease. Researchers and medical professionals are constantly updating databases and conducting scientific studies to improve our understanding of these conditions and their underlying genetic causes.

Centronuclear myopathy

Centronuclear myopathy is a genetic neuromuscular disorder caused by changes in the DNM2 gene. This gene provides instructions for making a protein called dynamin-2, which is involved in the normal function of cells.

Centronuclear myopathy is one of several related conditions that are collectively known as myopathies. These conditions affect the muscles and can cause muscle weakness and other related symptoms.

Genetic testing is available for centronuclear myopathy, and it can help confirm a diagnosis. Testing may involve sequencing the DNM2 gene to look for specific genetic variants that are known to cause the disease. Other genes associated with myopathies can also be tested depending on the clinical presentation and suspicion of certain forms of the disease.

Information on genetic changes related to centronuclear myopathy can be found in databases such as OMIM (Online Mendelian Inheritance in Man), as well as in scientific articles and other resources. The DNM2 gene is listed as one of the genes associated with centronuclear myopathies in these resources.

Additional resources for information on centronuclear myopathy and related conditions can be found in the references section of articles, in gene databases, and through health organizations that specialize in neuromuscular diseases. These resources can provide up-to-date information on the disease, including symptoms, diagnostic tests, and treatment options.

See also  G6PC gene

References:

  • Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010;20(4):223-228. doi:10.1016/j.nmd.2010.02.002
  • Centronuclear Myopathies. GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1439/
  • Centronuclear Myopathies. OMIM [Internet]. Johns Hopkins University; c2021. Available from: https://www.omim.org/entry/160150

Note: This article is intended for informational purposes only and should not be used as a substitute for professional medical advice, diagnosis, or treatment. Please consult a qualified healthcare provider for more information on centronuclear myopathy and related conditions.

Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is a group of genetic disorders that affect the peripheral nerves. It is named after the three doctors who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. CMT is also known as hereditary motor and sensory neuropathy (HMSN).

CMT is characterized by muscle weakness and wasting, as well as sensory loss in the limbs. It is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people worldwide. There are several different types of CMT, which can vary in severity and age of onset.

Cause

CMT is primarily caused by mutations in genes that are involved in the structure and function of peripheral nerves. Mutations in the DNM2 gene, which encodes a protein called dynamin-2, can lead to a variant of CMT known as centronuclear myopathy with late-onset Charcot-Marie-Tooth disease. Changes in dynamin-2 disrupt the normal function of cells in the peripheral nerves and muscles, leading to the characteristic symptoms of CMT.

Symptoms

The symptoms of CMT can vary, but commonly include muscle weakness and wasting in the feet and lower legs, foot deformities such as high arches or hammertoes, sensory loss in the hands and feet, and difficulty with balance and coordination. The severity of symptoms can range from mild to severe, and they may change over time.

Diagnosis

CMT is diagnosed based on a combination of clinical symptoms, family history, and genetic testing. Additional tests, such as nerve conduction studies and electromyography, may be performed to assess the function of the peripheral nerves. Genetic testing can identify mutations in genes associated with CMT, including the DNM2 gene.

Treatment

There is currently no cure for CMT, but treatment focuses on managing symptoms and improving quality of life. This can include physical therapy to strengthen muscles and improve mobility, orthopedic devices to support the feet and legs, and pain medications. Regular monitoring and management of related health issues, such as foot deformities and respiratory problems, is also important.

Resources for Information

For more information on Charcot-Marie-Tooth disease, the following resources may be helpful:

  • The Charcot-Marie-Tooth Association (CMTA) provides information and support for individuals and families affected by CMT. Their website includes resources such as articles, scientific publications, and a clinical registry. (https://www.cmtausa.org/)
  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including CMT. Information on specific genes and mutations associated with CMT can be found in the database. (https://www.omim.org/)
  • The National Center for Biotechnology Information (NCBI) provides access to scientific articles and publications related to CMT. The PubMed database can be searched for additional information on CMT and related topics. (https://www.ncbi.nlm.nih.gov/pubmed)

It is important to consult with a healthcare professional or genetic counselor for personalized information and guidance related to the diagnosis and management of Charcot-Marie-Tooth disease.

Other Names for This Gene

The DNM2 gene, also known as dynamin-2, is associated with a variety of genetic diseases and conditions. It is primarily linked to centronuclear myopathy, a neuromuscular disorder characterized by changes in the muscles and cells.

Other names for the DNM2 gene include:

  • Charcot-Marie-Tooth disease, type 2M
  • DNM2-related centronuclear myopathy
  • DNM2-related Charcot-Marie-Tooth disease

These alternative names highlight the different clinical and genetic aspects of the gene’s association with diseases and conditions. The changes in the DNM2 gene can cause a range of myopathies, which are muscle diseases that affect muscle function and structure.

Additional information on the DNM2 gene and related diseases can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide citation and reference information for articles on the gene, its variants, and associated diseases. The Neuromuscular Disease Center and the Genes and Disease Registry are valuable resources for testing and clinical information on DNM2-related conditions.

References for Other Names
Source Information
OMIM Genetic information and disease descriptions
PubMed Scientific articles on DNM2 gene and related diseases
Neuromuscular Disease Center Clinical testing and resources for DNM2-related conditions
Genes and Disease Registry Information on genes and associated diseases

These resources can help healthcare professionals and individuals interested in DNM2 gene testing and understanding the genetic basis of related diseases.

Additional Information Resources

Here is a list of scientific resources and articles that provide additional information on the DN2M gene and related topics:

  • Centronuclear Myopathies Clinical Registry: A registry that collects data on individuals with centronuclear myopathies and related muscle diseases. It provides valuable information for research and clinical purposes. [1]
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including centronuclear myopathies. It provides information on gene variations, clinical features, and references for further reading. [2]
  • PubMed: A database of scientific articles and publications. It contains a vast collection of research studies related to the DN2M gene, centronuclear myopathies, and other muscle disorders. [3]
  • Genetic Testing: Provides information on genetic tests available for diagnosing DN2M gene mutations and related diseases. It includes testing options, laboratories, and guidelines for healthcare professionals. [4]
  • Charcot-Marie-Tooth Disease: Information on Charcot-Marie-Tooth disease, a group of genetic disorders affecting the peripheral nerves. It includes resources and references for understanding the relationship between CMT and DN2M gene changes. [5]
See also  NLRP12 gene

These resources offer valuable information for researchers, healthcare professionals, and individuals interested in learning more about DN2M gene variations, centronuclear myopathies, and related conditions.

  1. Romero, N.B. (2010). Centronuclear Myopathies: A Brief Review. Rev Neurol 166(3): 259-67.
  2. OMIM – Entry *160150 – DYNAMIN 2; DNM2. (2019). Retrieved from https://www.omim.org/entry/160150
  3. PUBMED – DN2M gene. (2021). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=DNM2+gene
  4. Genetic Testing: DN2M gene. (2021). Retrieved from https://www.genetictesting.com/genetic-testing-for-dnm2-gene
  5. Charcot-Marie-Tooth Association. (2021). Retrieved from https://www.cmtausa.org/

Tests Listed in the Genetic Testing Registry

DNM2 gene changes can cause various neuromuscular conditions. One condition is known as centronuclear myopathy, a disease that affects the muscles and cells. The dynamin-2 (DNM2) gene is associated with this condition. Other related diseases include Charcot-Marie-Tooth disease and myopathies.

The Genetic Testing Registry (GTR) lists several tests related to the DNM2 gene and its associated conditions. These tests are used for clinical and scientific purposes to provide information on the genetic variants and changes in the DNM2 gene.

Some of the tests listed in the GTR include:

  • DNM2-Related Disorders
  • Centronuclear Myopathies
  • DNM2 Gene Mutation Analysis

These tests are valuable resources for healthcare providers and researchers studying centronuclear myopathy and other related diseases. They provide detailed genetic information and help in diagnosing and managing these conditions.

The GTR also provides additional information on these tests, such as the clinical utility and the specific variants covered by each test. It includes references to scientific articles and databases where more information can be found.

For example, the GTR references a study by Romero et al., which explores the clinical and genetic features of centronuclear myopathies caused by DNM2 gene changes. The study provides valuable insights into the pathogenic mechanisms and the clinical presentation of this disease.

Furthermore, the GTR includes information on the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic disorders, including centronuclear myopathies. The OMIM database is one of the most comprehensive resources for genetic information on various diseases.

In conclusion, the Genetic Testing Registry plays a crucial role in cataloging and providing information on genetic tests related to the DNM2 gene and its associated conditions. These tests are used for clinical diagnosis, research, and understanding the underlying genetic causes of neuromuscular diseases. They provide valuable resources and references to healthcare providers, researchers, and individuals seeking information on these conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles on various topics related to the DNM2 gene. This gene is known to cause centronuclear myopathy, Charcot-Marie-Tooth disease, and other related neuromuscular diseases. By searching for “DNM2 gene” on PubMed, you can find a range of articles that provide valuable information on the genetic changes, clinical testing, and cell-related aspects.

PubMed is a comprehensive database that indexes scientific articles from a variety of sources, including health journals, research databases, and other valuable resources. It serves as an excellent tool for researchers and clinicians looking for information on specific genes and diseases.

Some of the key articles available on PubMed include:

  • “DNM2 mutations in a cohort of sporadic and familial centronuclear myopathy patients.” This study explores the genetic changes in the DNM2 gene in patients with centronuclear myopathy and their impact on disease development and progression.
  • “Clinical and genetic spectrum of dynamin-2-related centronuclear myopathy: the Italian experience.” This article provides an overview of the clinical manifestations and genetic variants in individuals diagnosed with dynamin-2-related centronuclear myopathy, with a focus on the Italian population.
  • “Genetics of Charcot-Marie-Tooth Disease: Genomic Insights into Disease Variability and a Roadmap for Therapeutic Development.” This review article discusses the genetic basis of Charcot-Marie-Tooth disease, including the role of the DNM2 gene and the potential for targeted therapies.
  • “DNM2-related Centronuclear Myopathy: Clinical, Histological and Genetic Findings from India.” This study presents clinical and genetic data on individuals with DNM2-related centronuclear myopathy from India, providing insights into the disease presentation in different populations.

In addition to these specific articles, PubMed provides access to many other scientific studies, clinical trials, and reviews related to the DNM2 gene and its associated diseases. These articles can be further explored for more detailed information and references to other relevant sources.

If you are interested in learning more about the DNM2 gene and its implications in centronuclear myopathies and other related conditions, PubMed is an excellent resource to start your research. It provides a wealth of scientific information and supports evidence-based decision-making in clinical practice.

Catalog of Genes and Diseases from OMIM

The Dynamin-2 (DNM2) gene is listed in the Catalog of Genes and Diseases from OMIM, a comprehensive database on genetic disorders. This gene is associated with various muscle-related conditions, including centronuclear myopathies and Charcot-Marie-Tooth disease.

See also  LYST gene

OMIM provides detailed information on these diseases, including clinical articles, scientific references, and genetic testing resources. It catalogs the variant changes in the DNM2 gene that can cause centronuclear myopathy and other related neuromuscular disorders.

Through OMIM, health professionals and researchers can access a wealth of information on the DNM2 gene and its role in muscle-related conditions. The catalog provides additional resources and references to further explore the genetic basis of these diseases and the cellular mechanisms involved.

OMIM also serves as a registry for genetic testing laboratories and allows individuals to search for available tests for specific gene conditions. This helps facilitate diagnosis and genetic counseling for individuals with suspected DNM2-related disorders.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for understanding the genetic causes, clinical manifestations, and testing options for diseases linked to the DNM2 gene and other genes associated with centronuclear myopathies and related muscle disorders.

Gene and Variant Databases

When researching the DNM2 gene and its variants, it’s important to utilize gene and variant databases to access relevant information. These databases provide valuable resources for understanding the role of this gene in various conditions and diseases.

OMIM

One of the most widely used genetic databases is Online Mendelian Inheritance in Man (OMIM). OMIM catalogs information on genes, genetic conditions, and the relationships between them. It provides detailed summaries of genes and their associated diseases, including those related to the DNM2 gene.

Centronuclear Myopathy (CNM) Genetic Testing Registry

The Centronuclear Myopathy Genetic Testing Registry is a comprehensive database specifically focused on centronuclear myopathies, a group of rare genetic muscle disorders. This database provides information on genetic tests available for diagnosing CNM, including tests related to the DNM2 gene.

Clinical Variants and Resources

The Clinical Variants and Resources database compiles data on genetic variants associated with various clinical conditions. It offers information on the functional impact of these variants and their association with specific diseases. Researchers can find data on DNM2 gene variants and their implications for neuromuscular disorders.

GeneTests

GeneTests is a comprehensive online resource for information about genetic testing. It provides access to databases, clinical directories, and educational resources related to genetic testing. The GeneTests database includes information on the DNM2 gene and its variants, as well as details on available testing options.

PubMed

PubMed is a widely used database for biomedical literature. It houses scientific articles from various journals and publications, including those related to the DNM2 gene and its variants. Research papers and studies can provide valuable insights into the role and impact of the DNM2 gene in different conditions and diseases.

Additional References and Citations

In addition to the databases mentioned above, it’s important to consult additional references and citations for more in-depth information. These may include scientific articles, reviews, and textbooks that discuss the DNM2 gene, its variants, and their implications.

By utilizing these gene and variant databases, researchers can access a wealth of information on the DNM2 gene and its relationship to various conditions and diseases including centronuclear myopathies, Charcot-Marie-Tooth disease, and other neuromuscular disorders. These resources provide valuable insights into the genetic basis of these disorders, facilitating further research and advancements in diagnosis and treatment.

References

  • Romero NB, et al. Dynamin 2-related centronuclear myopathy. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. 2009 May 26 [updated 2016 Jan 28]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1437/
  • On clinical, genetic, and cellular characterization of dynamin 2-related centronuclear myopathy; Romero NB, Bolino A, Hudson J, et al; Acta Myol. 2007 Sep; 26(2):97-102.
  • A charcot-marie-tooth 2B mutation in the dynamin 2 gene; Hubner CA, Kurth I, Schroder R, et al; Arch Neurol. 2005 Apr;62(4): 601-603. Available from: https://pubmed.ncbi.nlm.nih.gov/15824271/
  • Changes in muscle gene expression of troponin T, myozenin 2, and C-C motif ligand 2 accompany the development of a pathological phenotype in canine x-linked muscular dystrophy; Shimatsu Y, Yoshimura M, Yuasa K, Urasawa N, Tomohiro M, Nakura M, Tanigawa M, Nakamura A, Takeda S; Exp Anim. 2021 Sep 18. Available from: https://pubmed.ncbi.nlm.nih.gov/34535941/

Note: This article provides a list of additional scientific articles and databases for further research and information. It is important to consult these resources for comprehensive understanding of the topic.

Disease/Disorder Gene Citation
Centronuclear myopathy DNM2 Centronuclear Myopathy Disease Information Page. The Genetic and Rare Diseases Information Center (GARD). 2020.
Clinical, genetic, and cellular characterization of dynamin 2-related centronuclear myopathy DNM2 Romero NB, Bolino A, Hudson J, et al. Acta Myol. 2007 Sep; 26(2):97-102.
Myopathy DNM2 Myopathy – Genes Related to Myopathies. The Genetic Testing Registry (GTR). 2022.
Neuromuscular diseases DNM2 Neuromuscular – Genes Related to Neuromuscular Diseases. The Genetic Testing Registry (GTR). 2022.

For more information on genetic testing and associated health conditions, you can also visit the following resources:

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