congenital myopathy 2C

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. Heterozygou

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).

Signs and symptoms

• Hypotonia
• Weakness of facial musculature
• Increased endomysial connective tissue
• Subdural hemorrhage
• Respiratory failure
• Type 1 muscle fiber predominance
• Breech presentation
• Skeletal muscle atrophy
• Cerebral hemorrhage
• Generalized muscle weakness

Also known as: autosomal dominant severe infantile congenital myopathy 2C