A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers - Archive ouverte HAL Access content directly
Journal Articles Journal of Neurology, Neurosurgery and Psychiatry Year : 2020

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers

Abstract

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 #614065). The muscle MRI findings are similar to those observed in FLNC-myofibrillar myopathy (MIM #609524). However, the muscle biopsy revealed >20% of muscle fibers with nemaline bodies, in addition to numerous ring fibers and a predominance of type 1 fibers. Overall, this case shows some unique and rare aspects of FLNC-myopathy constituting a new morphologic phenotype of FLNC-related myopathies.

Dates and versions

hal-03664347 , version 1 (10-05-2022)

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Teresinha Evangelista, Xavière Lornage, Pierre Carlier, Guillaume Bassez, Guy Brochier, et al.. A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers. Journal of Neurology, Neurosurgery and Psychiatry, 2020, 79 (8), pp.908-914. ⟨10.1093/jnen/nlaa052⟩. ⟨hal-03664347⟩
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