congenital myopathy 2B

Term ID

DOID:0081339

Synonyms

Definition

A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/25182138/

References

• OMIM:620265

Ontology

Human Disease   ( DOID:0081339 )