congenital myopathy 16

Term ID

DOID:0081348

Synonyms

Definition

A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. https://pubmed.ncbi.nlm.nih.gov/31025394/

References

• OMIM:618524

Ontology

Human Disease   ( DOID:0081348 )