MeSH Browser

MeSH Supplementary: Actin-Accumulation Myopathy
Unique ID: C579880
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C579880
Entry Term(s): Actin Filament Aggregate Myopathy; Actin Myopathy; Congenital Myopathy with Excess of Thin Filaments; Myopathy, Actin, Congenital, With Cores; Myopathy, Actin, Congenital, with Excess of Thin Myofilaments; Nemaline Myopathy 3, With Intranuclear Rods; Nemaline myopathy 3; Nemaline myopathy caused by mutation in the alpha-actin gene
Registry Numbers: 0
Heading Mapped to: *Myopathies, Structural, Congenital
Frequency: 4
Note: 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
Date of Entry: 2024/08/09
Revision Date: 2023/08/30

Actin-Accumulation Myopathy MeSH Supplementary Concept Data 2025