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GTR Home > Conditions/Phenotypes > MYPN-related myopathy

MYPN-related myopathy

Synonyms
Nemaline myopathy 11, autosomal recessive

Summary

Congenital myopathy-24 (CMYO24) is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017). For a discussion of genetic heterogeneity of congenital myopathy, see 117000. For a discussion of genetic heterogeneity of nemaline myopathy, see 256030. [from OMIM]

Available tests

24 tests are in the database for this condition.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1DD, CMH22, CMYO24, CMYP24, MYOP, NEM11, RCM4, MYPN
    Summary: myopalladin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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