Version: 8.0.0
Date: Tue Jan 28 2025
congenital myopathy 2C
DOID:0081340
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myopathy 2C

Definition
A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B).
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