Actin-Accumulation Myopathy
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
Also Known As:
Actin Filament Aggregate Myopathy; Actin Myopathy; Congenital Myopathy with Excess of Thin Filaments; Myopathy, Actin, Congenital, With Cores; Nemaline Myopathy 3, With Intranuclear Rods; Nemaline myopathy 3; Nemaline myopathy caused by mutation in the alpha-actin gene
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Disease Context: Research Results
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