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GTR Home > Conditions/Phenotypes > Myopathy, congenital, with structured cores and z-line abnormalities

Myopathy, congenital, with structured cores and z-line abnormalities

Synonyms
CONGENITAL MYOPATHY 8; MULTIPLE STRUCTURED CORE DISEASE

Summary

Congenital myopathy-8 (CMYO8) is an autosomal dominant disorder of the skeletal muscle characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades. Affected individuals show respiratory insufficiency, high-arched palate, and scoliosis; external ophthalmoplegia may also be present. Skeletal muscle biopsy shows cores and myofibrillar disorganization (Lornage et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ, ACTN2
    Summary: actinin alpha 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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