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Myopathy, myosin storage, autosomal recessive

Synonyms
CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE

Summary

Autosomal recessive myosin storage congenital myopathy-7B (CMYP7B) is a skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable, even within families. Most patients develop respiratory insufficiency, nocturnal hypoventilation, and restrictive lung disease; some develop hypertrophic cardiomyopathy. Additional features include myopathic facies, high-arched palate, scoliosis, and muscle wasting with thin body habitus. Serum creatine kinase may be normal or elevated. Skeletal muscle biopsy shows variable findings, including myosin storage disease, type 1 fiber predominance, centralized nuclei, and multiminicore disease (Onengut et al., 2004; Tajsharghi et al., 2007; Beecroft et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000). [from OMIM]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1S, CMH1, CMYP7A, CMYP7B, MPD1, MYHCB, SPMD, SPMM, MYH7
    Summary: myosin heavy chain 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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