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Human Disease

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
Ontology
Human Disease   ( DOID:0081339 )
Relationships
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Genes Involved
Zebrafish Models