U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Congenital myopathy 15

Congenital myopathy 15

Synonyms
Myopathy, congenital, with neonatal respiratory insufficiency

Summary

Congenital myopathy-15 (CMYO15) is a skeletal muscle disorder characterized by symptom onset soon after birth. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. The disorder is unique in that there is gradual improvement of the severe muscle weakness with time, although forced vital capacity remains decreased. Additional features include facial weakness, scoliosis, joint contractures, and persistent ptosis or external ophthalmoplegia (van de Locht et al., 2021). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CFAP85, CMYO15, CMYP15, FAP85, MYONRI, TNNC2
    Summary: troponin C2, fast skeletal type

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.