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GTR Home > Conditions/Phenotypes > Myopathy, congenital, with tremor

Myopathy, congenital, with tremor

Synonyms
CONGENITAL MYOPATHY 16; MYOGENIC TREMOR

Summary

Congenital myopathy-16 (CMYO16) is an autosomal dominant muscle disorder characterized by onset of hypotonia and tremor in infancy. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. Some may develop secondary mild contractures or spinal deformities. Cognition is normal and the disease course tends to stabilize after adolescence (summary by Stavusis et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMYO16, CMYP16, LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C, MYBPC1
    Summary: myosin binding protein C1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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