Actin-Accumulation Myopathy
MESHC579880
Congenital myopathy caused by mutations in the ACTA1 gene that presents with a variety of clinical and cytological phenotypes. They generally include weakness of the proximal muscles, with involvement of the facial, bulbar, and respiratory muscles. Age of onset and severity also vary; OMIM: 161800
Synonyms
- Actin Filament Aggregate Myopathy
- Actin Myopathy
- Congenital Myopathy with Excess of Thin Filaments
- Nemaline myopathy 3
- Nemaline myopathy caused by mutation in the alpha-actin gene
- Nemaline Myopathy 3, With Intranuclear Rods
- Myopathy, Actin, Congenital, With Cores
- Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Source last updated 2026-05-24T15:29:02.402Z