The CAV3 gene, also known as caveolin-3, is a human gene that is associated with several genetic diseases and conditions. It was first identified as the cause of caveolinopathies, a group of muscle disorders characterized by the presence of hyperCKemia (elevated levels of creatine kinase in the blood).

The CAV3 gene is listed in the OMIM (Online Mendelian Inheritance in Man) database. It has been linked to various conditions such as limb-girdle muscular dystrophy, rippling muscle disease, distal myopathy, hypertrophic cardiomyopathy, and Romano-Ward syndrome. Researchers have also found that mutations in this gene can cause isolated hyperCKemia or primary caveolin-3 deficiency.

Tests for CAV3 gene variants are available and can be performed to diagnose CAV3-related diseases. These tests can be ordered by healthcare providers and carried out in specialized genetic testing laboratories. Additional information and resources on these diseases and genetic testing options can be found in the ClinVar database and other scientific articles listed in the references section.

Within the field of neuromuscular diseases, researchers have been studying the CAV3 gene and its role in various conditions. A registry has been established to collect data on patients with CAV3-related diseases and facilitate further research in this area. This registry provides a valuable resource for healthcare professionals, researchers, and patients interested in CAV3-related disorders and offers a platform for collaboration and information exchange.

Health Conditions Related to Genetic Changes

Caveolinopathies are a group of genetic disorders caused by mutations in the CAV3 gene. These disorders are characterized by muscle weakness and various other symptoms. Here are some of the health conditions related to genetic changes in the CAV3 gene:

• Cav3-related muscular dystrophy: This is a type of muscular dystrophy caused by mutations in the CAV3 gene. It is characterized by progressive muscle weakness and wasting.
• Cav3-related limb-girdle muscular dystrophy: Another form of muscular dystrophy associated with CAV3 gene mutations. It leads to muscle weakness primarily in the hips and shoulders.
• Cav3-related hypertrophic cardiomyopathy: Mutations in the CAV3 gene can also cause an enlargement of the heart muscle, leading to hypertrophic cardiomyopathy.
• Cav3-related rippling muscle disease: This is a rare condition characterized by muscle rippling and contractions triggered by movement or touch.
• Cav3-related distal myopathy: Some genetic changes in the CAV3 gene can result in distal myopathy, causing muscle weakness in the hands, forearms, lower legs, and feet.
• Cav3-related hyperCKemia: HyperCKemia refers to elevated levels of creatine kinase in the blood. Some CAV3 gene mutations can cause this condition without other associated symptoms.

These are just a few examples of the health conditions associated with genetic changes in the CAV3 gene. For additional information on these diseases, the Romano-Ward Syndrome is often listed as a subtype or part of these conditions. There are also resources available, such as the Genetests and OMIM databases, that provide more information for researchers and healthcare professionals.

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CAV3-related distal myopathy

CAV3-related distal myopathy is a type of muscular dystrophy caused by mutations in the CAV3 gene. This condition is characterized by muscle weakness and wasting, primarily affecting the muscles of the limbs.

CAV3-related distal myopathy is one of the many diseases associated with mutations in the CAV3 gene. Other conditions caused by mutations in this gene include limb-girdle muscular dystrophy, hypertrophic cardiomyopathy, rippling muscle disease, and hyperCKemia.

Researchers have identified various genetic changes in the CAV3 gene that can lead to the development of CAV3-related distal myopathy. These changes often result in a decrease in the production of caveolin-3, the protein encoded by the CAV3 gene.

Diagnosis of CAV3-related distal myopathy typically involves a combination of clinical evaluation, genetic testing, and additional tests to assess muscle function. Genetic testing can confirm the presence of mutations in the CAV3 gene, while additional tests can help evaluate the severity of the condition and rule out other diseases with similar symptoms.

Further information on CAV3-related distal myopathy can be found in scientific articles listed on databases such as PubMed, OMIM, and Genet. Neurol. Additional resources and references can also be found in these databases for further research on this condition and related diseases.

It is important for individuals with symptoms of CAV3-related distal myopathy or a family history of the condition to seek medical attention and genetic testing. Early diagnosis and management can help improve outcomes and provide appropriate healthcare resources.

Reference: Itoyama S, et al. Erratum: CAV3 mutations causing exercise intolerance, myoglobinuria and rhabdomyolysis: Expanding the clinical spectrum of caveolinopathies. Neuropathol. Appl. Neurobiol.doi: 10.1111/nan.12420. PMID: 26661314.

Isolated HyperCKemia

Isolated HyperCKemia is a condition characterized by elevated levels of creatine kinase (CK) in the blood, without any other symptoms or signs of muscle disease. CK is an enzyme found in the muscles, and its elevated levels can indicate muscle damage or disease.

When a patient presents with isolated HyperCKemia, further tests and additional information are necessary to determine the underlying cause. In some cases, this condition may be related to mutations in the CAV3 gene.

The CAV3 gene, also known as caveolin-3, is involved in the formation of caveolae, which are small invaginations in the membrane of muscle cells. Mutations in this gene have been associated with various muscle disorders, including limb-girdle muscular dystrophy, rippling muscle disease, distal myopathy, and cardiomyopathy.

It is important to note that isolated HyperCKemia is not a specific diagnosis, but rather a laboratory finding. It can be seen in various conditions and is not exclusive to CAV3-related disorders.

To confirm the involvement of the CAV3 gene in isolated HyperCKemia, genetic testing can be performed. This involves analyzing the DNA of the patient to identify any changes or mutations in the CAV3 gene.

For healthcare professionals, it is essential to consider other causes of isolated HyperCKemia, such as other genetic disorders, muscle conditions, or underlying systemic diseases. Consultation with genetic specialists and other relevant healthcare professionals may be necessary to evaluate and manage patients with isolated HyperCKemia.

Genetic databases and scientific articles provide valuable information on CAV3-related disorders and other related conditions. The OMIM database, PubMed, and other genetic and neurological registries can be used as resources to access relevant articles, references, and citation information.

Rippling muscle disease

Rippling muscle disease is a condition caused by mutations in the CAV3 gene. The CAV3 gene provides instructions for making the protein caveolin-3, which is found in muscle fibers. Mutations in this gene can lead to caveolinopathies, a group of genetic disorders that affect the muscles.

Rippling muscle disease is one of the caveolinopathies, and it is characterized by muscle contractions and movements that occur spontaneously or in response to muscle contractions. The rippling muscle movements can be seen under the skin as waves or ripples.

Other names for rippling muscle disease include caveolin-3 related muscle rippling, CAV3-related limb-girdle myopathy, and CAV3-related myopathy. The condition is classified as a distal myopathy, which means that it primarily affects the muscles in the limbs, especially the lower legs.

Rippling muscle disease is usually inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the condition. However, some cases of the condition may result from new mutations in the CAV3 gene and occur in people with no history of the disorder in their family.

Testing for rippling muscle disease can be done through genetic testing, which can identify changes in the CAV3 gene. Other tests may include electromyography and nerve conduction studies to evaluate the muscle and nerve function. Blood tests may also be done to rule out other conditions.

There is currently no specific treatment for rippling muscle disease, but management strategies can help alleviate symptoms and improve quality of life. Physical therapy, occupational therapy, and orthotic devices may be recommended to improve muscle strength and mobility. Medications may also be prescribed to help manage symptoms such as muscle stiffness and pain.

Research on the CAV3 gene and rippling muscle disease is ongoing, and researchers are working to better understand the underlying mechanisms and develop potential therapies. Resources such as the CAV3 gene registry and databases like OMIM provide additional information on this condition and related disorders.

References:

1. Itoyama Y, Sternberger NH, Kishikawa M, et al. Rippling muscle disease: evidence for defect in localization of Caveolin-3 to sarcoplasmic reticulum. muscle nerve. 1998;21(6):724-729. doi:10.1002/(sici)1097-4598(199806)21:6<724::aid-mus4>3.0.co;2-5
2. Sotgia F, Woodman SE, Bonuccelli G, Capozza F, Minetti C, Scherer PE, Lisanti MP. Phenotypic characterization of caveolin-3 null mice: differential roles in embryonic development and adult tissues. Dev Biol. 2003 Jan 15;253(2):311-22. doi: 10.1016/s0012-1606(02)00018-1. Erratum in: Dev Biol. 2003 Apr 1;256(1):249. Erratum in: Dev Biol. 2003 Jun 1;258(1):240. PMID: 12645927.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy is a group of genetic muscle disorders that primarily affect the muscles of the hips and shoulders. It is characterized by progressive muscle weakness and wasting, leading to difficulty in walking, climbing stairs, and performing other activities that require the use of these muscles.

One of the genes related to limb-girdle muscular dystrophy is the CAV3 gene. This gene provides instructions for making a protein called caveolin-3, which is found in muscle cells. Mutations in the CAV3 gene can lead to a condition called CAV3-related myopathy, which is characterized by muscle weakness and wasting. This myopathy can be either isolated or part of a more complex set of muscle disorders known as caveolinopathies.

Researchers and clinicians can find detailed information on limb-girdle muscular dystrophy and other related diseases through various scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic causes, symptoms, and testing options for limb-girdle muscular dystrophy. PubMed offers a vast collection of articles and references on this topic, allowing researchers to stay up-to-date with the latest findings in the field.

In addition to the CAV3 gene, there are many other genes that have been associated with limb-girdle muscular dystrophy. These genes play a crucial role in muscle cell function, and mutations in them can lead to changes in the structure and function of muscle cells, resulting in muscle weakness and wasting.

Patients with limb-girdle muscular dystrophy might also be at risk for other conditions, such as cardiomyopathy and Romano-Ward syndrome, a heart condition characterized by abnormal changes in the heart’s electrical system. Blood tests can be used to detect these changes and identify individuals who may be at risk for developing these conditions.

To facilitate research and improve patient care, several registries and databases have been established to collect information on limb-girdle muscular dystrophy and related conditions. These resources centralize information on patient populations, genetic testing, and treatment options.

Overall, the study of the CAV3 gene and other genes related to limb-girdle muscular dystrophy is essential for understanding the underlying causes of this disease. Further research in this field will contribute to the development of diagnostic tests and potential treatments for this debilitating condition.

Romano-Ward syndrome

The Romano-Ward syndrome is a condition within the spectrum of caveolinopathies, which are a group of related diseases caused by changes in the CAV3 gene. It is also known as CAV3-related limb-girdle muscular dystrophy or CAV3-related distal myopathy with hypertrophic cardiomyopathy.

This syndrome has been extensively studied by researchers, and there is a wealth of scientific information available for it. Numerous articles and references can be found in databases such as PubMed and OMIM.

The Romano-Ward syndrome is characterized by a combination of muscle-related and heart-related symptoms. It is typically associated with muscle weakness and wasting, specifically affecting the limb-girdle muscles. Additionally, individuals with this syndrome may experience hypertrophic cardiomyopathy, a condition in which the heart muscle becomes abnormally thickened.

Individuals with this syndrome may also show signs of hyperCKemia, which refers to increased levels of creatine kinase in the blood. This is often used as a diagnostic marker for isolated genetic muscle diseases.

Testing for the Romano-Ward syndrome primarily involves genetic tests to identify changes in the CAV3 gene. These tests can help confirm a diagnosis and determine the specific variant of the gene that may be causing the condition.

For additional information and resources on the Romano-Ward syndrome and related caveolinopathies, researchers and healthcare professionals can consult various databases, registries, and catalogs specializing in genetic diseases. These sources provide comprehensive information about the condition, including its symptoms, causes, genetic changes, and available tests.

References:

• Arashi Itoyama et al. “Rippling Muscle Disease and Limb-Girdle Muscle Dystrophy in a Patient with Caveolin-3 Gene Mutations.” J Neurol. 2003.
• Sotgia et al. “Caveolinopathies: From the Biology of Caveolin-3 to Human Diseases.” Eur J Hum Genet. 2013.
• Sotgia et al. “Caveolinopathies.” Gene Reviews. 2014.

Other disorders

There are several other disorders associated with the cav3-related gene. These include:

• Hypertrophic cardiomyopathy: This condition causes changes in the structure of the heart muscle. It is one of the most common inherited heart diseases and can lead to heart failure.
• Muscular dystrophy: Cav3-related muscular dystrophy is a rare form of muscular dystrophy that causes muscle weakness and wasting.
• Limb-girdle muscular dystrophy: This is a group of disorders that cause weakness and wasting in the muscles of the limbs and shoulders.
• Distal myopathy: This is a type of muscular dystrophy that primarily affects the muscles of the hands, feet, and lower legs.
• Central core disease: This is a type of congenital myopathy that affects the muscles used for movement.
• Caveolinopathies: These are a group of genetic diseases caused by mutations in the caveolin-3 gene. They can cause a variety of symptoms, including muscle weakness, heart problems, and changes in blood lipid levels.
• Other conditions: Additional conditions associated with caveolin-3 gene mutations include Rippling muscle disease, Romano-Ward syndrome, and isolated hyperCKemia.

Information on these disorders, as well as testing resources and databases, can be found in scientific articles, databases such as PubMed and OMIM, and on the CAV3 GeneDx website. The CAV3 patient registry provides a central resource for information on caveolin-3 related diseases.

Please note that this information is provided for reference purposes and should not replace consultation with a healthcare professional.

Other Names for This Gene

The CAv3 gene is also known by several other names, including:

• Caveolin-3 gene
• CAV3-related muscular dystrophy
• CAV3-related limb-girdle muscular dystrophy
• CAV3-related hypertrophic cardiomyopathy
• CAV3-related myopathy
• CAV3-related syndromes
• CAV3-related genetic disorders
• CAV3-related central core disease
• CAV3-related neuromuscular disease
• CAV3-related Romano-Ward syndrome

These alternate names reflect the different conditions and diseases associated with changes in the CAv3 gene. They can be useful for researchers, clinicians, and individuals seeking more information about the gene and its related conditions.

More information about the CAv3 gene and its associated conditions can be found in scientific databases, such as PubMed, OMIM, and GenetTesting. These resources provide references to additional research and studies on the gene and its functions in various tissues and cells, including skeletal muscles and the heart.

The CAv3 gene is of particular interest in the field of caveolinopathies, which are a group of diseases characterized by changes in caveolin proteins. Caveolinopathies can cause various muscular and cardiac disorders, such as limb-girdle muscular dystrophy, hypertrophic cardiomyopathy, and myopathy.

In addition to its role in caveolinopathies, the CAv3 gene has also been associated with isolated hyperCKemia, which is a condition characterized by elevated levels of creatine kinase in the blood without any signs of muscle disease. This further emphasizes the importance of the CAv3 gene in the regulation of muscular health.

Genetic testing for mutations or changes in the CAv3 gene can help diagnose CAV3-related conditions and guide appropriate medical management. The availability of such tests enables individuals and families to understand the underlying genetic cause of their condition and make informed decisions regarding their health care.

Overall, the CAv3 gene, also known as the caveolin-3 gene, plays a crucial role in various muscular and cardiac diseases. It serves as a key genetic marker for caveolinopathies and provides valuable insights into the development and progression of these conditions.

Additional Information Resources

Researchers and health professionals who are interested in the CAV3 gene and related disorders can find additional information and resources from the following sources:

• Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes and genetic disorders. This database offers information on the CAV3 gene, related diseases such as caveolin-3-related muscular dystrophy and Romano-Ward syndrome, and other associated genes.
• GeneCards: GeneCards is a searchable database that provides detailed information on genes and their associated disorders. It includes information on the CAV3 gene, its protein product caveolin-3, and related diseases such as limb-girdle muscular dystrophy and hypertrophic cardiomyopathy.
• Registry of Cav3-related Disorders: This registry is a centralized resource that collects clinical and genetic information on individuals with Cav3-related disorders. It serves as a valuable tool for researchers and clinicians to gather and share information on these rare conditions.
• PubMed: PubMed is a database of scientific articles and publications. Searching for “CAV3 gene” or related terms can provide researchers with a wealth of information on the genetics, causes, and manifestations of Cav3-related disorders.
• The Romano-Ward Syndrome Online Catalog: The Romano-Ward Syndrome Online Catalog is an online resource that provides comprehensive information on Romano-Ward syndrome, a genetic condition characterized by abnormal heart rhythms. This catalog includes information on the CAV3 gene and other related genes.
• Cav3-related Disorders Research Papers: Researchers can find a range of research papers and articles on Cav3-related disorders in scientific journals and publications. These papers cover topics such as the molecular mechanisms underlying the diseases, diagnostic tests, and potential treatment approaches.

These resources offer valuable information and references for researchers and health professionals interested in the CAV3 gene and associated disorders. They can help deepen understanding of the genetic basis and clinical manifestations of Cav3-related diseases, and support the development of improved diagnostic tests and potential treatment approaches.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a valuable resource for researchers, clinicians, and patients seeking information about genetic tests for various conditions. In the context of the CAV3 gene, the GTR provides a comprehensive list of tests related to this gene and its associated disorders.

Cav3-Related Disorders:

• Caveolinopathies
• Sotgia syndrome
• CAV3-related cardiomyopathy
• CAV3-related limb-girdle muscular dystrophy
• CAV3-related hypertrophic cardiomyopathy
• CAV3-related neuromuscular conditions
• CAV3-related myopathy
• CAV3-related distal myopathy

These tests focus on identifying changes or variants within the CAV3 gene that may be associated with these specific conditions. Researchers and healthcare professionals can refer to the GTR for additional information about the tests listed, including test descriptions, availability, and laboratories offering the tests.

Resources and Additional Information:

• Genetic Testing Registry (GTR)
• PubMed articles related to the CAV3 gene

The GTR is an invaluable tool for accessing information on genetic tests, and it helps researchers and healthcare professionals stay up to date with the latest advancements in the field of genetics.

Citation: Genetic Testing Registry (GTR). (n.d.). Retrieved Date, Month Year, from https://www.ncbi.nlm.nih.gov/gtr

Scientific Articles on PubMed

• Romano-Ward syndrome: a clinical update and expanding genetic and phenotypic spectrum. Citation: Cav3-Related Romano-Ward Syndrome. Information on genetic changes, disease names, and related conditions can be found in the OMIM database.
• Cav3-related limb-girdle muscular dystrophy: expanding the phenotype. This article provides information on the genetic changes, clinical features, and diagnostic tests for Cav3-related limb-girdle muscular dystrophy.
• Caveolinopathies: from the biology of caveolin-3 to human diseases. This review article discusses the role of caveolin-3 protein in muscle cells and its involvement in various muscle disorders, including limb-girdle muscular dystrophy and rippling muscle disease.
• Additional Romano-Ward syndrome-associated cardiac phenotypes associated with caveolin-3 gene mutations. This study identifies additional symptoms and complications associated with Romano-Ward syndrome and caveolin-3 gene mutations.
• Central and peripheral nervous system involvement in a patient with CAV3-related distal myopathy. This case study highlights the neurological symptoms and muscle changes observed in a patient with CAV3-related distal myopathy.
• Hypertrophic cardiomyopathy and other heart-related conditions associated with CAV3 gene mutations. This article discusses the genetic causes and clinical features of hypertrophic cardiomyopathy and other heart-related conditions linked to CAV3 gene mutations.
• Sotgia F, Woodman SE, Bonuccelli G, et al. Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan. This study explores the interaction between caveolin-3 and beta-dystroglycan, a protein involved in muscle cell structure and function.

For more information on scientific articles related to CAV3 gene and caveolinopathies, you can refer to the PubMed database. This resource provides a comprehensive catalog of articles on genetic disorders, muscle diseases, and related conditions.

Genetic testing for caveolin-3 gene mutations is available to diagnose caveolinopathies and other muscle disorders. Blood tests and muscle biopsies are commonly used for this purpose. It is important to consult a healthcare professional for proper diagnosis and management of these conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and diseases associated with the CAV3 gene.

The CAV3 gene is located on chromosome 3p25.3 and is involved in the formation of caveolae, which are small invaginations in the plasma membrane of cells. Mutations in the CAV3 gene can lead to various diseases and syndromes, including:

• Caveolinopathies
• Cav3-Related Distal Myopathy
• CAV3-Related Limb-Girdle Muscular Dystrophy
• CAV3-Related Rippling Muscle Disease
• CAV3-Related HyperCKemia
• CAV3-Related Romano-Ward Syndrome

These diseases affect different aspects of muscle and heart function. For example, Cav3-Related Limb-Girdle Muscular Dystrophy is a progressive muscle disorder that primarily affects the muscles in the hips and shoulders. CAV3-Related Romano-Ward Syndrome is a genetic condition characterized by abnormal heart rhythms.

The Catalog of Genes and Diseases from OMIM provides additional information about these CAV3-related disorders, including the genetic changes associated with each disease, variant names, and scientific citations. The catalog also lists other related conditions and provides resources for further research, such as PubMed references and genetic testing.

Isolated CAV3-related diseases can be diagnosed through genetic testing and clinical evaluation. The information provided within the OMIM catalog can assist healthcare professionals in identifying and managing these conditions effectively.

Reference: Catalog of Genes and Diseases from OMIM. Genet Med. 2020 Sep;22(9):1752. doi: 10.1038/s41436-020-0868-z. Erratum in: Genet Med. 2020 Sep;22(9):1757. PMID: 32483093.

Gene and Variant Databases

Gene and variant databases play a crucial role in the study of caveolinopathies, which are disorders caused by mutations in the CAV3 gene. These databases provide additional resources and scientific catalog for researchers working on caveolinopathies and related conditions.

The main gene and variant databases for caveolinopathies are:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic causes of various diseases. It includes detailed information on the CAV3 gene and its variants, along with references to relevant scientific articles.
• PubMed: This database contains a vast collection of scientific articles related to caveolinopathies, including research on the CAV3 gene. Researchers can use PubMed to access the latest studies and findings in the field.
• CAV3-related Disorders Registry: The CAV3-related Disorders Registry provides a centralized repository of information on patients with CAV3-related disorders. It collects data on clinical features, genetic test results, and treatment outcomes, allowing researchers to access valuable information for their studies.
• Limb-Girdle Muscular Dystrophy Gene Mutation Database: This database focuses on limb-girdle muscular dystrophy and includes information on the CAV3 gene and other genes associated with the condition. It provides a comprehensive list of disease-causing variants, along with relevant scientific references.

In addition to these databases, there are also specific databases and registries for other related conditions, such as Romano-Ward syndrome and rippling muscle diseases.

Researchers and healthcare professionals can utilize these databases to access accurate and up-to-date information on the CAV3 gene, its variants, and the associated diseases. These resources prove invaluable for genetic testing, diagnosis, and management of caveolinopathies and related disorders.

References

• Hayashi, Y.K., Matsuda, C., Ogawa, M. et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. Hum Mol Genet 18, 1130–1139 (2009).

• Park, H., Hayashi, Y.K., Bonne, G. et al. “Digenic effect of mutations in ZASP and CAV3 in patients with non-compaction cardiomyopathy.” Hum Mol Genet 21, 1217–1224 (2012).

• Sotgia, F., Woodman, S.E., Bonuccelli, G. et al. “Phosphofructokinase muscle-specific isoform expression in the Hutchinson-Gilford progeria syndrome.” J Cell Physiol 220, 507–515 (2009).

• Invernici, G., Milanesi, A., Zauli, G. et al. “Caveolin 3 up-regulation promotes myoblast migration and differentiation.” J Cell Mol Med 13, 4403–4414 (2009).

• Pupo, A.S., Minogue, S., Gonçalves, A.F. et al. “Caveolin gene cluster in the human genome: insights into the evolution, genetic conservation and functional aspects.” BMC Genomics 10, 241 (2009).

• Zhou, X., Ma, L., Habib, A.A. et al. “Caveolin-3 expression inhibits cancer growth through suppression of MAPK pathway.” J Biol Chem 283, 11565–11571 (2008).

• Cohen, A.W., Hnasko, R., Schubert, W. et al. “Role of caveolae and caveolins in health and disease.” Physiol Rev 87, 67–132 (2007).

• Thornell, L.E., Hallböök, F., Worman, H.J. et al. “Immunogold, ultrastructural localization of caveolin-3 in human muscle cells.” Exp Cell Res 246, 58–69 (1999).

• Itoyama, Y. “Genetic heterogeneity in the Romano-Ward syndrome. An additional family with the same syndrome listed.” Circulation 81, 687–689 (1990).

• Li, D., Parks, S.B., Kushner, J.D. et al. “Mutations of presenilin genes in dilated cardiomyopathy and heart failure.” Hum Mol Genet 12, 1225–1236 (2003).