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Actin-Accumulation Myopathy [Supplementary Concept]
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 introduced: October 24, 2013
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments [Supplementary Concept]
PROM mutation in ACTA1
Date introduced: November 5, 2012