Article
A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.
Journal of neuropathology and experimental neurology - 1 Aug 2020
Evangelista Teresinha, Lornage Xavière, Carlier Pierre G, Bassez Guillaume, Brochier Guy, Chanut Anais, Lacène Emmanuelle, Bui Mai-Thao, Metay Corinne, Oppermann Ursula, Böhm Johann, Laporte Jocelyn, Romero Norma B
Abstract excerpt
Autosomal dominant pathogenic variants in the filamin C gene (FLNC) have been associated with myofibrillar myopathies, distal myopathies, and isolated cardiomyopathies. Mutations in different functional domains of FLNC can cause various clinical phenotypes. A novel heterozygous missense variant c.608G>A, p.(Cys203Tyr) in the actin binding domain of FLCN was found to cause an upper limb distal myopathy (MIM...
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