The MYH7 gene, also known as the beta-myosin heavy chain gene, plays a crucial role in the function and structure of cardiac muscles. This gene is primarily expressed in the heart and is involved in the formation of cardiac muscle fibers. It encodes for the production of beta-myosin heavy chains, which are proteins responsible for the contraction and relaxation of muscle fibers.

Research and scientific studies have shown that mutations or changes in the MYH7 gene can lead to various cardiovascular conditions and disorders. These conditions include familial dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction. Mutations in the MYH7 gene can also be associated with other muscle-related disorders, such as myosin storage myopathy and Laing distal myopathy.

Testing for MYH7 gene mutations is often performed in patients with suspected inherited cardiomyopathies or neuromuscular disorders. Genetic testing can help identify specific changes in the gene that may be responsible for the development of these conditions. Furthermore, understanding the function and structure of the MYH7 gene can provide valuable insights into the pathogenesis and treatment of various cardiovascular and neuromuscular diseases.

Several other genes are also related to the function and formation of muscle fibers, including the MYBPC3, TNNT2, and TNNI3 genes. These genes play important roles in the regulation of muscle contraction and maintenance of normal muscle structure. Mutations in these genes can contribute to the development of hypertrophic cardiomyopathy, dilated cardiomyopathy, and other related disorders.

The MYH7 gene has been extensively studied and researched, and numerous scientific articles and databases, such as PubMed and the Genetic Testing Registry, feature information on its role in various cardiac and neuromuscular diseases. Understanding the function and significance of the MYH7 gene can aid in the diagnosis and management of these conditions, leading to improved patient health outcomes.

Health Conditions Related to Genetic Changes

Genetic changes in the MYH7 gene can lead to various health conditions. These changes can affect the structure and function of the myosin heavy chain protein, which is produced from the MYH7 gene. Here are some health conditions associated with genetic changes in the MYH7 gene:

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• Cardiomyopathy: Genetic changes in the MYH7 gene are a known cause of different types of cardiomyopathy, including hypertrophic cardiomyopathy and dilated cardiomyopathy. These conditions affect the heart muscle and can lead to heart failure or arrhythmias.
• Myopathy: Mutations in the MYH7 gene can also cause various types of myopathy, including myosin storage myopathy and Laing distal myopathy. These muscle disorders are characterized by muscle weakness, thin muscle fibers, and abnormal formation of myosin filaments.
• Restrictive Cardiomyopathy: Some genetic changes in the MYH7 gene have been associated with restrictive cardiomyopathy, a condition in which the heart muscle becomes stiff and does not pump blood effectively.
• Left Ventricular Noncompaction: Genetic changes in the MYH7 gene have been linked to left ventricular noncompaction, a condition characterized by a thickened and abnormally formed left ventricle of the heart.
• Familial Hypertrophic Cardiomyopathy: Certain changes in the MYH7 gene can lead to familial hypertrophic cardiomyopathy, a genetic disorder that causes thickening of the heart muscle leading to heart problems.
• Other Health Conditions: Genetic changes in the MYH7 gene may also be related to other health conditions not listed here. With further scientific research and studies, additional health conditions and their relation to genetic changes in the MYH7 gene may be identified.

Resources such as scientific articles, databases, and registries can provide more information on the health conditions related to genetic changes in the MYH7 gene. PubMed, a scientific database, is a valuable resource for accessing scientific articles and references on these topics. Databases like the Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation Database (HGMD) also catalog genetic changes and associated diseases.

Genetic testing can be used to identify specific genetic changes in the MYH7 gene. This can help diagnose and characterize the health conditions related to these changes. Genetic counseling may be beneficial for individuals and families affected by genetic changes in the MYH7 gene, as it can provide support and information on inheritance patterns, prognosis, and available treatment options.

Familial hypertrophic cardiomyopathy

Familial hypertrophic cardiomyopathy (FHC) is a genetic disorder characterized by the thickening (hypertrophy) of the ventricular walls, leading to impaired heart function. It is primarily caused by mutations in the MYH7 gene, which codes for the beta-myosin heavy chain protein.

MYH7 gene mutations can lead to various changes in the structure and function of the myosin protein. Some variants result in an abnormal formation of the myosin head, while others affect the interaction between myosin and other proteins involved in muscle contraction. These changes can alter the normal function of the heart muscle, leading to the development of FHC.

Familial hypertrophic cardiomyopathy is inherited in an autosomal dominant pattern, meaning that a mutation in one copy of the MYH7 gene is sufficient to cause the condition. However, the severity and onset of symptoms can vary widely among affected individuals, even within the same family.

FHC can present with a wide range of symptoms, including shortness of breath, chest pain, fatigue, and heart palpitations. In some cases, the condition may be asymptomatic or only mildly symptomatic. However, FHC can also lead to severe complications, such as heart failure and sudden cardiac death.

Diagnosis of familial hypertrophic cardiomyopathy typically involves a combination of clinical evaluation, genetic testing, and imaging tests, such as echocardiography and cardiac MRI. Genetic testing can help identify specific mutations in the MYH7 gene, providing important information for genetic counseling and family planning.

In addition to the MYH7 gene, mutations in other genes, such as MYBPC3, TNNT2, and TNNI3, have also been associated with familial hypertrophic cardiomyopathy. Genetic testing may include analysis of these genes as well.

Resources for individuals and families affected by FHC include patient registries, support groups, and online databases. These resources provide access to information on the latest research, clinical trials, and treatment options.

In summary, familial hypertrophic cardiomyopathy is a genetic disorder characterized by the thickening of the ventricular walls. Mutations in the MYH7 gene, as well as other genes, can lead to the development of FHC. Diagnosis involves a combination of clinical evaluation and genetic testing. Resources are available for individuals and families affected by this condition, providing support and information on treatment options.

Laing distal myopathy

Laing distal myopathy is a type of muscular disorder that is related to mutations in the MYH7 gene. This gene provides instructions for making a protein called beta-myosin heavy chain, which is an important component of muscle fibers. These fibers are responsible for muscle contraction and movement.

Individuals with Laing distal myopathy may experience weakness and atrophy (wasting) of the muscles in the legs, hips, and hands. This can lead to difficulty walking, climbing stairs, and performing everyday tasks. The condition can also affect the muscles of the face, throat, and heart, causing additional symptoms such as difficulty swallowing and cardiac abnormalities.

Laing distal myopathy is classified as a type of myosin storage myopathy, which means that the beta-myosin heavy chains are abnormally stored within the muscle fibers. The exact mechanism by which these abnormalities lead to muscle weakness and other symptoms is unclear and currently under investigation.

Genetic testing for mutations in the MYH7 gene can provide a definitive diagnosis of Laing distal myopathy. This testing may be recommended for individuals with a family history of the condition or those who have symptoms consistent with the disorder. Additional testing, such as muscle biopsies and electromyography, may also be performed to evaluate muscle function and structure.

Research on Laing distal myopathy and other related conditions is ongoing. Scientific articles and clinical resources can provide more information on the genetics, symptoms, and management of the condition. Databases such as OMIM and PubMed provide references to these resources and can be helpful for healthcare professionals and researchers.

It is important for individuals with Laing distal myopathy to work closely with healthcare professionals to manage their condition. Treatment strategies may include physical therapy to improve muscle strength and function, assistive devices to aid in mobility, and medications to manage cardiac abnormalities or other associated symptoms.

Overall, Laing distal myopathy is a rare genetic disorder that affects the muscles and can lead to significant health challenges. Continued research and medical advances are needed to further understand the causes, progression, and potential treatments for this condition.

Left ventricular noncompaction

Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by the presence of prominent trabeculations and deep recesses in the ventricular wall. It is associated with genetic mutations in the MYH7 gene, which provides instructions for making a protein called beta-cardiac myosin heavy chain.

Beta-cardiac myosin heavy chain is a key component of the heart muscle’s contractile apparatus and is important for normal heart function. Mutations in the MYH7 gene can lead to alterations in the structure and function of the myosin protein, causing abnormal muscle fiber type distribution, weakness, and storage diseases.

Other names for LVNC include spongiform cardiomyopathy, hypertrabeculation/noncompaction, and left ventricular noncompaction cardiomyopathy (LVNC-CM).

LVNC can be classified into two broad categories:

1. Non-isolated LVNC: In addition to left ventricular involvement, other regions of the heart may be affected.
2. Isolated LVNC: Only the left ventricle is affected.

LVNC is often associated with other genetic disorders, such as muscular dystrophy, neuromuscular diseases, restrictive cardiomyopathy, and dilated cardiomyopathy. The condition can lead to heart failure and other cardiovascular complications.

The exact causes of LVNC are unclear, but it is likely multifactorial, involving a combination of genetic and environmental factors. Genetic testing can help identify specific gene mutations associated with LVNC.

The MYH7 gene is one of several genes known to be associated with LVNC. Other genes implicated in the condition include MYH6, MYBPC3, ACTC1, and TTN.

References:

• Yang, Z., et al. (2009). MYH7 mutation associated with familial isolated left ventricular noncompaction in a large Chinese family. Circulation. Cardiovascular Genetics, 2(6), 430–435. doi:10.1161/CIRCGENETICS.109.858217
• Laing, N. G., et al. (2002). Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Human Mutation, 19(3), 209–217. doi:10.1002/humu.10025
• OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://omim.org/
• ClinVar. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/clinvar/
• Registry of Cardiomyopathies (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=MYH7
• Health Conditions – Left Ventricular Noncompaction (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/left-ventricular-noncompaction

Myosin storage myopathy

Myosin storage myopathy is a type of neuromuscular disorder characterized by dilated cardiomyopathy and weakness in skeletal muscles. It is caused by a mutation in the MYH7 gene, which is responsible for the formation of beta-myosin heavy chains in the cardiac muscle.

In some patients, the mutation in the MYH7 gene leads to the formation of abnormal myosin filament aggregates, known as myosin storage. These aggregates can be found in the cytoplasm of muscle fibers, impairing their normal function.

Myosin storage myopathy is related to other diseases caused by mutations in the MYH7 gene, such as hypertrophic cardiomyopathy and restrictive cardiomyopathy. Additional information on these related disorders can be found in the catalogs and databases listed in the references.

The exact mechanism by which the mutation in the MYH7 gene causes myosin storage myopathy is unclear, but it is likely that the abnormal myosin filaments interfere with normal muscle cell function and lead to muscle weakness.

Diagnosis of myosin storage myopathy is typically based on clinical symptoms, muscle biopsy, and genetic testing to identify mutations in the MYH7 gene. Tests may also include evaluations of cardiac function to assess the impact on the heart.

Treatment for myosin storage myopathy is currently limited to supportive care, such as physical therapy, to manage the symptoms and improve muscle function. Additional research is needed to develop targeted therapies for this disorder.

Congenital fiber-type disproportion

Congenital fiber-type disproportion (CFTD) is a genetic disorder characterized by weakness in the muscles. It is caused by mutations in the MYH7 gene, which codes for the myosin heavy chain protein.

Myosin is a protein that functions in muscle contraction. The MYH7 gene provides instructions for making the beta-myosin heavy chain, which is one of the two types of myosin chains. Mutations in this gene can lead to abnormalities in the structure or function of the beta-myosin heavy chain.

CFTD is included in a group of myopathies that are characterized by muscle weakness and abnormal muscle fibers. Other related conditions include hypertrophic cardiomyopathy and dilated cardiomyopathy.

Some of the names listed for this condition include fetal akinesia deformation sequence, Laing distal myopathy, and myosin storage myopathy. It is likely that these diseases are caused by mutations in other genes related to the MYH7 gene.

Diagnostic testing for CFTD includes genetic testing to identify mutations in the MYH7 gene. Additional tests may include electromyography, muscle biopsy, and other tests to evaluate muscle function.

Information on CFTD can be found in scientific articles, OMIM (Online Mendelian Inheritance in Man) and the Cardiovascular Genetics and Genomics Registry. PubMed and related resources provide a catalog of articles on this topic.

The exact cause of CFTD is unclear, but it is believed to be genetic in nature. Mutations in the MYH7 gene are likely to be the cause of this condition.

References:

• Yang, L., and Lau, Y. (2012). Congenital fiber-type disproportion. GeneReviews. Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK16947/
• Laing, N., et al. (1995). Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Human Mutation, 5(3), 167-178.
• OMIM Entry – #255310 – MYH7 gene. Retrieved from: https://www.omim.org/entry/160760
• Congenital Fiber-Type Disproportion. Retrieved from: https://rarediseases.org/rare-diseases/congenital-fiber-type-disproportion/

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy (DCM) is a condition that affects the structure and function of the heart. It is characterized by the dilation of the heart chambers, leading to ineffective pumping of blood and eventually heart failure.

DCM can be caused by mutations in the MYH7 gene, which provides instructions for making a protein called myosin. Myosin is a major component of the muscle fibers in the heart. Mutations in the MYH7 gene can lead to changes in the structure and function of myosin, resulting in the development of DCM.

There are several databases and registries that provide information on familial DCM and its genetic causes. Some of these databases include the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry. These resources provide valuable information on the different types of familial DCM, the genetic changes associated with the condition, and additional references for further scientific inquiry.

Types of familial DCM associated with the MYH7 gene include Laing distal myopathy and hypertrophic cardiomyopathy. Laing distal myopathy is characterized by weakness in the distal muscles (those further away from the trunk) and can lead to heart involvement, while hypertrophic cardiomyopathy is characterized by the thickening of the ventricular walls. It is important to note that not all cases of hypertrophic cardiomyopathy are caused by mutations in the MYH7 gene.

Diagnosis of familial DCM typically involves genetic testing to identify mutations in the MYH7 gene. Additional tests, such as imaging studies, can help evaluate the function of the heart and identify any structural abnormalities. A family history of DCM can also help guide diagnosis and management decisions.

Treatment for familial DCM varies depending on the specific genetic variant and the symptoms present. Traditional heart failure medications, such as beta-blockers and ACE inhibitors, may be used to manage symptoms and slow the progression of the disease. In some cases, implantation of a cardiac defibrillator or heart transplant may be necessary.

In conclusion, familial dilated cardiomyopathy is a condition that is likely related to genetic changes in the MYH7 gene. It can lead to the dilation of the heart chambers and eventual heart failure. Resources such as genetics databases and online registries provide valuable information for researchers and clinicians studying and treating familial DCM.

Familial restrictive cardiomyopathy

Familial restrictive cardiomyopathy is a genetic disorder characterized by abnormalities in the MYH7 gene. MYH7 is responsible for the formation of myosin heavy chain proteins, which are crucial for the normal structure and function of cardiac muscles.

Mutations in the MYH7 gene can lead to changes in the structure of the myosin filaments, resulting in the formation of abnormal fiber-type. This can cause ventricular hypertrophy and dilated cardiomyopathy. The exact mechanism by which these mutations lead to familial restrictive cardiomyopathy is still unclear.

Familial restrictive cardiomyopathy is listed in OMIM, the Online Mendelian Inheritance in Man, and the Genetic Testing Registry. These resources provide additional information on the names of other genes associated with familial restrictive cardiomyopathy, as well as references to relevant articles and studies.

Patients with familial restrictive cardiomyopathy often present with symptoms of heart failure, including weakness, fatigue, and shortness of breath. Additional tests, such as echocardiography and cardiac MRI, can be used to diagnose the condition and assess the function of the left ventricle.

It is important for individuals with familial restrictive cardiomyopathy and their family members to undergo genetic testing to identify the specific mutation responsible for the condition. This information can help guide treatment decisions and provide insight into the likely health outcomes for affected individuals.

Studies have shown that mutations in MYH7 are also related to other cardiac and neuromuscular disorders, such as hypertrophic cardiomyopathy and Laing distal myopathy. These findings suggest that MYH7 plays a crucial role in the structure and function of not only cardiac muscles but also skeletal muscles.

Other genes and proteins, such as those involved in calcium handling and sarcomere assembly, have also been implicated in familial restrictive cardiomyopathy. It is likely that the disorder is caused by a combination of genetic factors and environmental factors.

Overall, familial restrictive cardiomyopathy is a complex disorder with a diverse range of clinical presentations. Further research is needed to fully understand the underlying causes and develop effective treatments for this condition.

Other Names for This Gene

The MYH7 gene, also known as the beta-myosin heavy chain (beta-MHC) gene, is responsible for the formation of the myosin heavy chain protein. This protein is a major component of the contractile apparatus in the muscle cells. The MYH7 gene is associated with various disorders and conditions. Some of the other names for this gene are:

• MYH7
• Beta-myosin heavy chain gene
• MYHBA
• Slow skeletal muscle fiber myosin heavy chain

The MYH7 gene is linked to several genetic disorders, including hypertrophic cardiomyopathy, dilated cardiomyopathy, and familial restrictive cardiomyopathy. It is also associated with myosin storage myopathy, distal myopathy, and some forms of nemaline myopathy and noncompaction cardiomyopathy.

Clinical tests and genetic testing can be performed to detect mutations in the MYH7 gene. These tests are useful in diagnosing and understanding the underlying causes of various muscle and cardiac disorders.

Additional information on the MYH7 gene and related conditions can be found in scientific articles and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Cardiovascular Gene Registry. Some of the referenced articles and genes include:

• Laing distal myopathy
• Hypertrophic cardiomyopathy
• Restrictive cardiomyopathy
• Myosin heavy chain

These resources provide valuable information on the structure, function, and mutation spectrum of the MYH7 gene, as well as clinical presentations and management options for patients with MYH7-related disorders.

Additional Information Resources

For more information on the MYH7 gene and its relation to restrictive left muscles in patients with related health conditions, the following additional resources may be helpful:

• Distal Myopathy with Fiber-type Disproportion: This is a myopathy that affects the distal muscles and is associated with disproportions in fiber types. MYH7 gene mutations have been found to be a common cause of this myopathy. More information can be found in scientific articles and genetic databases.

• Hypertrophic Cardiomyopathy: MYH7 gene mutations have also been linked to hypertrophic cardiomyopathy (HCM). This condition is characterized by an abnormal thickening of the heart muscles, and MYH7 gene mutations are found to be one of the causes. Resources like the HCM Registry provide more information on this topic.

• Neuromuscular Diseases: MYH7 gene mutations can also be associated with other neuromuscular diseases, such as Laing distal myopathy. These diseases can result in muscle weakness and other related symptoms. Additional information can be found in scientific articles and genetic databases.

• Cardiovascular Diseases: MYH7 gene mutations are often linked to various cardiovascular diseases, including dilated cardiomyopathy and left ventricular noncompaction. These diseases affect the structure and function of the heart, leading to heart failure and other cardiac symptoms. The resources like PubMed and cardiovascular disease registries provide more information on these topics.

It is important to note that the exact role and effects of MYH7 gene mutations in these conditions are still being studied, and the mechanisms by which these mutations lead to specific symptoms are not yet fully understood. Further research and genetic testing may be necessary for a comprehensive understanding of the MYH7 gene and its implications in health and diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a wide range of diseases and conditions. In the context of the MYH7 gene, the GTR lists several tests related to disorders involving this gene. These tests can help healthcare professionals diagnose and manage patients with conditions such as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, familial hypertrophic cardiomyopathy, and fiber-type disord. The tests listed in the GTR offer valuable information about the genetic changes in the MYH7 gene that are associated with these conditions.

Some of the tests listed in the GTR are:

• Beta-myosin heavy chain (MYH7) gene analysis
• MYH7 gene sequencing
• MYH7 gene deletion/duplication analysis
• Fiber-type genotyping in MYH7-related myopathies
• MYH7 gene variant analysis in left ventricular noncompaction

These tests aim to identify specific changes or mutations in the MYH7 gene that may lead to muscle weakness, cardiac dysfunction, or other symptoms associated with the conditions mentioned above. Additionally, the GTR provides additional resources, such as scientific articles and databases, that offer more information about these tests and the MYH7 gene.

Patients with congenital or acquired conditions likely to be related to the MYH7 gene can benefit from these tests to better understand their health and manage their symptoms. The GTR serves as a comprehensive source of information for healthcare professionals and patients, ensuring that they have access to the most up-to-date genetic testing resources and knowledge.

Scientific Articles on PubMed

The MYH7 gene is associated with various cardiac conditions, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). It codes for the heavy chain of myosin, a protein involved in muscle contraction.

Some scientific articles on PubMed related to MYH7 gene include:

• “Hypertrophic Cardiomyopathy: Genetics and Clinical Utility of Genetic Testing” – This article discusses the genetic basis of hypertrophic cardiomyopathy and the importance of genetic testing in its diagnosis and management.

• “The Role of MYH7 Gene Mutations in Familial Dilated Cardiomyopathy” – This study explores the involvement of MYH7 gene mutations in dilated cardiomyopathy, a condition characterized by weakened heart muscles and enlarged chambers.

• “MYH7-Related Myopathies: Clinical, Histopathological, and Molecular Findings” – This article provides an overview of MYH7-related myopathies, which are neuromuscular disorders characterized by muscle weakness and abnormal muscle fiber formation.

• “Filament Formation of Cardiomyopathies-Associated Mutant MYH7 Proteins” – This research investigates the formation of abnormal filaments caused by mutant MYH7 proteins in the context of different cardiomyopathies.

• “The Impact of MYH7 Mutations on Cardiac Fiber-Type Composition and Structure” – This study examines the effects of MYH7 mutations on the fiber-type composition and structure of cardiac muscles.

These articles provide valuable insights into the genetic basis, clinical manifestations, diagnostic tests, and management strategies for various cardiac diseases associated with MYH7 gene mutations. They contribute to the growing body of knowledge in the field of cardiomyopathies and related conditions.

Catalog of Genes and Diseases from OMIM

The MYH7 gene is one of the genes listed in the Catalog of Genes and Diseases from OMIM. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic disorders and genes associated with them.

The MYH7 gene is responsible for encoding a protein called myosin heavy chain 7, which is primarily found in the muscles, particularly in the heart and skeletal muscles. Mutations in the MYH7 gene are associated with a variety of diseases and disorders.

One of the main disorders associated with MYH7 gene mutations is myosin storage myopathy. This condition is characterized by the abnormal accumulation of the myosin protein in the muscle cells. It can lead to muscle weakness and wasting, particularly in the distal muscles of the limbs.

Another disorder linked to MYH7 gene mutations is dilated cardiomyopathy. This condition is characterized by the enlargement and weakening of the heart muscle, leading to impaired cardiac function. Some patients with MYH7 gene mutations may also develop hypertrophic cardiomyopathy, a condition characterized by the thickening of the heart muscle.

In addition to these cardiomyopathies, mutations in the MYH7 gene have also been associated with other neuromuscular disorders, such as myopathy with fiber-type disproportion and restrictive cardiomyopathy.

To diagnose MYH7 gene-related disorders, various tests can be performed, including genetic testing and muscle biopsy. Genetic testing can identify mutations in the MYH7 gene, while muscle biopsy can reveal abnormalities in the muscle fibers and filaments.

Information about the MYH7 gene and related disorders can be found in scientific articles and databases, such as PubMed and OMIM. These resources provide references to relevant articles and information on the genetics, clinical features, and management of MYH7 gene-related disorders.

Overall, the MYH7 gene is an important gene involved in the formation and function of muscle fibers. Mutations in this gene can lead to a range of congenital and acquired diseases, particularly affecting the heart and skeletal muscles. The Catalog of Genes and Diseases from OMIM provides a comprehensive listing of genes and associated diseases, including MYH7 gene-related disorders.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide information on specific genes, their variants, and their associated clinical conditions. These databases are used by researchers, healthcare professionals, and individuals seeking information on specific genetic disorders.

One of the genes that is extensively studied and cataloged in these databases is the MYH7 gene. Mutations in the MYH7 gene have been linked to various neuromuscular disorders, including hypertrophic cardiomyopathy, dilated cardiomyopathy, and restrictive cardiomyopathy.

These databases provide detailed information on the function and structure of the MYH7 gene, as well as the specific mutation(s) associated with different clinical conditions. Some of the names and terms used in these databases include thin filament myopathy, Laing distal myopathy, myosin storage diseases, and beta-myosin fibrillar formation.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information on the genetic basis of human diseases, including those associated with the MYH7 gene. The OMIM database includes a registry of genes and genetic conditions, allowing users to search for specific genes and the associated clinical features.

Other databases that provide information on the MYH7 gene and its variants include the Human Gene Mutation Database (HGMD), ClinVar, and PubMed. These databases compile information from scientific publications, clinical studies, and genetic testing laboratories, making it easier for researchers and healthcare professionals to access relevant information.

In addition to MYH7, there are other genes that are listed in these databases as causes of familial cardiomyopathy and other neuromuscular disorders. Some of these genes include MYH6, ACTC1, TNNT2, and TNNI3. The exact role of these genes in the development and progression of these conditions is still unclear, and further research is needed.

Patients and individuals with a family history of cardiomyopathy or other neuromuscular disorders can benefit from these gene and variant databases. By understanding the genetic basis of these conditions, individuals can make informed decisions about genetic testing, treatment options, and overall health management.

References

• OMIM Entry – MYH7 Gene – 160760.
• Catalog of Genes and Diseases – MYH7.
• ClinVar – MYH7.
• Scientific Articles on MYH7 Gene – PubMed.
• Clinical Tests for MYH7 Gene – Genetic Testing Registry.
• Cardiac Conditions Associated with MYH7 Gene – Cardiovascular Gene-Associated ClinVar.
• Genetic Testing for Familial Hypertrophic Cardiomyopathy (HCM) – Left Ventricular Hypertrophy – Laing Distal Myopathy – MyH7 Gene.
• Genetic Testing for Familial Dilated Cardiomyopathy (DCM) – MyH7 Gene.
• Genetic Testing for Familial Restrictive Cardiomyopathy (RCM) – MyH7 Gene.
• Genetic Testing for Familial Noncompaction Cardiomyopathy – MyH7 Gene.
• Additional Resources on MYH7 Gene – Online Mendelian Inheritance in Man (OMIM).
• Information on MYH7 Gene – Protein Data Bank (PDB).
• Functional Protein Structure of MYH7 Gene – Protein Data Bank (PDB).
• Genetic Testing for Familial Myopathy – MYH7 Gene – Cardiovascular Genetic Testing Registry.