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GTR Home > Conditions/Phenotypes > Myofibrillar myopathy 6

Myofibrillar myopathy 6

Synonyms
Myofibrillar myopathy, BAG3-related
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of rapidly progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, and filamentous inclusions, and sural nerve biopsy shows a neuropathy, often with giant axonal neurons. Most patients are severely affected by the second decade and need cardiac transplant, ventilation, and/or a wheelchair (summary by Jaffer et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419). [from OMIM]

Available tests

68 tests are in the database for this condition.

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Clinical tests (68 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAG-3, BIS, CAIR-1, MFM6, BAG3
    Summary: BAG cochaperone 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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