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GTR Home > Conditions/Phenotypes > CONGENITAL MYOPATHY 25

CONGENITAL MYOPATHY 25

Summary

Congenital myopathy-25 (CMYO25) is an autosomal recessive disorder of congenital myopathy characterized by prominent facial, ocular, and bulbar features (Johari et al., 2024). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CMT2K, CMYO25, JP-1, JP1, JPH1
    Summary: junctophilin 1

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