The MTM1 gene, also known as myotubularin 1, is a genetic health gene that plays a crucial role in the development and function of muscle cells. Mutations in this gene are associated with a condition called X-linked myotubular myopathy (XLMTM), also known as myotubular myopathy. XLMTM is a rare genetic disorder that primarily affects muscle tone and can lead to severe muscle weakness and respiratory problems.

The MTM1 gene is listed in various scientific databases, such as PubMed and OMIM, where additional information about the gene, its variants, and related conditions can be found. The gene is also included in the Online Mendelian Inheritance in Man (OMIM) database, which provides valuable resources for genetic testing and counseling.

Research on the MTM1 gene has led to important discoveries and understanding of the pathogenesis of myotubular myopathy, as well as potential treatment options. Changes or mutations in the MTM1 gene can result in the production of an abnormal myotubularin protein, which removes it from being functional in muscle cells.

Further scientific articles, cataloged by the MTM1 gene, provide additional information on this genetic disorder, its symptoms, and the latest advancements in its diagnosis and treatment. The Myotubular Myopathy Resource Registry is also available for patients and families seeking support and guidance.

Health Conditions Related to Genetic Changes

In the context of the MTM1 gene, there are several health conditions related to genetic changes. These conditions are primarily associated with mutations or variants in the MTM1 gene, which encodes for the protein myotubularin. Myotubular myopathy (MTM), also known as X-linked myotubular myopathy, is the main condition associated with genetic changes in the MTM1 gene.

Myotubular myopathy is a rare genetic muscle disorder that affects skeletal muscles, resulting in muscle weakness and developmental delays. It is characterized by the presence of centrally located nuclei in muscle fibers, giving them a myotubular appearance. The severity of symptoms can vary, ranging from severe muscle weakness and respiratory difficulties to milder forms of the disease.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

To find more information about health conditions related to genetic changes in the MTM1 gene, scientific articles and databases such as PubMed, Online Mendelian Inheritance in Man (OMIM), and the Genetic Testing Registry can be valuable resources. These sources provide additional information on various genetic changes, disease names, and associated symptoms.

The Genetic Testing Registry (GTR) is a useful resource for finding information about scientific tests related to the MTM1 gene. The GTR lists genetic tests that are available for identifying specific genetic changes in the MTM1 gene, aiding in the diagnosis of myotubular myopathy and related conditions.

In addition to myotubular myopathy, there are other myopathy conditions that can be related to genetic changes in various genes. These conditions may have overlapping symptoms or genetic causes. It is important to consult relevant scientific articles, databases, and healthcare professionals to obtain comprehensive information about these conditions.

References and resources:

• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/
• Genetic Testing Registry (GTR): https://www.ncbi.nlm.nih.gov/gtr/

With the information and resources listed above, individuals can gain a better understanding of the genetic changes associated with various health conditions, including myotubular myopathy and related myopathies.

X-linked myotubular myopathy

X-linked myotubular myopathy (XLMTM) is a genetic myopathy caused by mutations in the MTM1 gene. This gene provides instructions for making a protein called myotubularin, which is involved in the development and maintenance of muscle cells.

XLMTM is a rare condition that primarily affects males. It is characterized by severe muscle weakness and hypotonia (low muscle tone) from birth. Infants with XLMTM often have difficulty breathing and swallowing, and may require respiratory support and feeding assistance. They may also have joint deformities and delayed motor milestones.

XLMTM is inherited in an X-linked recessive pattern, which means that the condition is passed down from the mother to her sons. Carrier females have a normal copy of the MTM1 gene on one X chromosome and a mutated copy on the other. They usually do not show symptoms of the condition but can pass the mutated gene on to their children.

Genetic testing can confirm a diagnosis of XLMTM by identifying mutations in the MTM1 gene. Other tests, such as muscle biopsy and electromyography, may be performed to assess muscle function and rule out other conditions.

Currently, there is no cure for XLMTM. Treatment focuses on managing symptoms and supporting the affected individual’s overall health and well-being. This may include respiratory support, physical therapy, and assistive devices for mobility.

For more information about XLMTM and related conditions, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed scientific information about XLMTM and other genetic diseases. It includes information about genes, genetic variants, and associated phenotypes. OMIM can be accessed at www.omim.org.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central database that provides information about genetic tests for XLMTM and other conditions. It includes information about the purpose of the tests, their methodology, and their availability. The GTR can be accessed at www.ncbi.nlm.nih.gov/gtr.
• PubMed: PubMed is a database of scientific articles and publications. It can be searched for articles on XLMTM and related topics. PubMed can be accessed at pubmed.ncbi.nlm.nih.gov.

In addition, many organizations and support groups provide information and resources for individuals and families affected by XLMTM. Some of these include:

• Muscular Dystrophy Association: The Muscular Dystrophy Association (MDA) provides support and resources for individuals with XLMTM and other neuromuscular disorders. More information can be found at www.mda.org.
• The MTM-CNM Family Connection: The MTM-CNM Family Connection is an organization dedicated to supporting individuals and families affected by XLMTM and related disorders. Their website can be found at www.mtm-cnm.org.

For additional information and references about XLMTM and the MTM1 gene, please refer to the scientific articles and genetic databases listed above.

Other Names for This Gene

The MTM1 gene is also known by other names:

• Myotubularin 1
• MTM
• MTMXM1
• X-linked myotubular myopathy 1
• XLMTM

These different names are used to refer to the same gene, MTM1, which is associated with myotubular myopathy. Myotubular myopathy is a rare genetic condition that affects muscle development and function. Changes in the MTM1 gene can lead to the development of this disease.

Additional information about the MTM1 gene can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on genetic tests, related diseases, and changes in the gene that may be associated with different conditions.

References:

1. MTM1 gene – Genetics Home Reference: https://ghr.nlm.nih.gov/gene/MTM1
2. MTM1 – GeneCards: https://www.genecards.org/cgi-bin/carddisp.pl?gene=MTM1

Additional Information Resources

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about the genetic changes and related diseases caused by mutations in the MTM1 gene. It contains articles, descriptions, and references for various conditions linked to this gene, such as X-linked myotubular myopathy.
• Genetic Testing Registry: The Genetic Testing Registry is a database that provides information about genetic tests for various conditions. It includes listings for tests related to the MTM1 gene and X-linked myotubular myopathy.
• PubMed: PubMed is a scientific database that contains articles and references from scientific journals. It includes research papers and studies related to the MTM1 gene, myotubular myopathy, and other conditions associated with myotubularin-related genes.
• Myotubular Trust: The Myotubular Trust is a non-profit organization dedicated to the research and development of treatments for myotubular myopathy. Their website provides information about the condition, research updates, and resources for individuals and families affected by myotubular myopathy.
• Other Databases: There are other databases and resources available for more information on the MTM1 gene and related conditions. These include the Genes and Diseases database, which lists genes associated with various diseases, and the Health-Conditions website, which provides information about different health conditions and their genetic basis.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive database that provides information about genetic tests for a variety of conditions. In the context of the MTM1 gene, the GTR lists several tests related to muscle-related diseases, specifically X-linked myotubular myopathy.

These tests aim to identify changes or variants in the MTM1 gene that are associated with the development of X-linked myotubular myopathy. By identifying these genetic changes, healthcare professionals can provide accurate diagnoses and guide appropriate treatment plans for individuals affected by this condition.

The GTR compiles information from various genetic testing resources, scientific articles, databases, and other references to catalog and provide detailed information on the different tests available. It removes the need for healthcare professionals to search through multiple sources independently, streamlining the process and improving access to critical information.

The GTR incorporates additional resources such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes and genetic conditions. By integrating these resources, the GTR ensures that healthcare professionals have access to comprehensive and up-to-date information.

Currently, the GTR lists the names of tests, associated genes, conditions, and health-related references. It also provides information on the availability and status of tests, including whether they are in development or already in use.

The GTR’s listing of tests related to the MTM1 gene is invaluable for healthcare professionals and researchers studying X-linked myotubular myopathy and other genetic muscle-related conditions. It centralizes and organizes the necessary information, making it easier to access and utilize in clinical practice and research.

Scientific Articles on PubMed

• The MTM1 Gene: Development and Information – This article provides an overview of the MTM1 gene and its role in muscle development. It discusses how information on the gene is cataloged and removes from databases and provides a list of additional resources for further research.
• Myotubularin and the MTM1 Gene: Genetic Changes and Associated Diseases – This article explores the genetic changes that occur in the MTM1 gene and the resulting muscle diseases, such as myotubular myopathy. It discusses the role of myotubularin in the development of these conditions.
• Variant Testing for the MTM1 Gene: Testing Methods and Results – This article discusses the different testing methods available for detecting genetic variants in the MTM1 gene. It provides information on the specific tests and their results.
• Related Genes and Conditions: Other Genes Linked to Myotubular Myopathy – This article explores other genes that are related to myotubular myopathy, such as those involved in X-linked myopathy. It discusses the genetic changes and associated conditions.
• References and Resources: Scientific Articles and Registries for MTM1 Gene – This article provides a list of references to scientific articles on the MTM1 gene, as well as resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Myotubular Myopathy Registry.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genetic diseases and associated genes. It provides comprehensive and up-to-date information on various genetic conditions, including myotubular myopathy.

Myotubular myopathy is a rare genetic muscle disorder that is also known as X-linked myotubular myopathy (XLMTM). It is caused by mutations in the MTM1 gene, which encodes the protein myotubularin.

The OMIM catalog lists the MTM1 gene and provides detailed information about the genetic changes associated with myotubular myopathy. This includes variant names, genomic coordinates, and references to scientific articles.

In addition to the MTM1 gene, the OMIM catalog also includes information about other genes and conditions related to myotubular myopathy. This includes genes that interact with myotubularin and contribute to the development of the disease.

The OMIM catalog provides a rich set of resources for researchers, clinicians, and individuals interested in myotubular myopathy. It includes links to external databases, such as the Human Gene Mutation Database and the Genetic Testing Registry, where additional information on genetic tests for myotubular myopathy can be found.

Furthermore, OMIM provides access to the MTM1 gene entry, which includes a summary of the gene, information about the protein it encodes, and a list of genetic conditions associated with mutations in this gene.

Overall, the OMIM catalog serves as a valuable resource for understanding the genetic basis of myotubular myopathy and related diseases. It consolidates information from various scientific sources and provides a comprehensive overview of the genetic changes underlying this condition.

Gene and Variant Databases

Gene and variant databases provide valuable resources for researchers, clinicians, and individuals interested in the MTM1 gene and its associated variants. These databases offer comprehensive information on genetic changes, variant names, and their impact on health conditions such as myotubular myopathy.

One of the primary resources for gene and variant information is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog that provides information on genetic disorders, genes, and their associated variants. It includes references to scientific articles, clinical tests, and additional resources for further exploration.

The MTM1 gene, also known as myotubularin, is listed in OMIM along with other related genes and conditions. The database provides detailed information on the gene structure, associated diseases, and known variants. OMIM references scientific articles and other databases, making it a valuable resource for researchers.

Another important database for myotubular myopathy is the MTM1 Gene Variant Registry. Created by the MTM-CNM Family Connection, this registry aims to collect and share information on MTM1 gene variants. It serves as a platform for patients, families, and researchers to contribute their data and collaborate on research and testing.

In addition to these specific databases, there are other general genetic and variant databases that include information on the MTM1 gene. These databases, such as PubMed, provide access to scientific articles, clinical studies, and genetic testing resources related to myotubular myopathy and other muscle-related conditions.

These databases are essential tools for understanding the MTM1 gene and its variants, facilitating research and the development of diagnostic and therapeutic approaches for myotubular myopathy and related disorders.

Key Databases for MTM1 Gene and Variant Information:

Databases	URL
OMIM	https://www.omim.org
MTM1 Gene Variant Registry	https://mtmcnmregistry.org
PubMed	https://pubmed.ncbi.nlm.nih.gov

By utilizing these gene and variant databases, researchers, healthcare professionals, and individuals can access critical information on the MTM1 gene and its variants. This knowledge aids in diagnosis, genetic testing, and the development of therapies for myotubular myopathy and related conditions.

References

The following resources were used to gather information on the MTM1 gene and its related conditions:

• The Myotubular Myopathy Registry, which collects data on individuals affected by myotubular myopathy, includes information on genetic variants of the MTM1 gene.
• The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic conditions, including myotubular myopathy.
• PubMed, a database of scientific articles, contains numerous references to myotubular myopathy and related research.
• The Myotubular Myopathy Resource Center, a comprehensive website dedicated to information on myotubular myopathy, provides additional resources and references.
• Genetic testing laboratories may list the MTM1 gene as part of their panel of genes associated with muscle-related conditions.

These resources offer a wealth of information on the MTM1 gene, myotubular myopathy, and related conditions. They can be used to learn more about the genetic changes and variant names associated with the MTM1 gene, as well as to access additional scientific articles and testing information.