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GTR Home > Conditions/Phenotypes > Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with reduced type 2 muscle fibers

Synonyms
CONGENITAL MYOPATHY 14; MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital myopathy-14 (CMYO14) is an autosomal recessive skeletal muscle disorder characterized by onset of severe muscle weakness apparent at birth and sometimes in utero. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. Other features include delayed motor development with delayed walking, hypo- or areflexia, and high-arched palate. Skeletal muscle biopsy shows variation in fiber size with specific atrophy of the fast-twitch type II fibers. Cardiac muscle is not affected (summary by Ravenscroft et al., 2018). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

Available tests

4 tests are in the database for this condition.

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Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMYO14, CMYP14, MLC-1, MLC1, MLC1/3, MLC1F, MLC3F, MYOFTA, MYL1
    Summary: myosin light chain 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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