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Article

Reducing body myopathy - A new pathogenic FHL1 variant and literature review.

Neuromuscular disorders : NMD - 1 Sept 2021

Mota Isabella Araujo, Correia Carolina da Cunha, Fontana Pedro Nogueira, Carvalho Alzira Alves de Siqueira

Abstract excerpt

Reducing body myopathy (RBM) is a rare disease marked by progressive muscle weakness caused by a mutation in FHL1 gene. We describe a new pathogenic variant and contrasted it with 44 other cases identified in the literature. A male child presented at age 3 suffering frequent falls and progressive muscular weakness. At age 8, he was wheelchair-bound and required ventilatory support. His mother and sister died due...

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Identifiers

PMID: 34366191
DOI: 10.1016/j.nmd.2021.03.013

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