Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

Published: May 8, 2020
Abstract
We identified ten persons in six consanguineous families with Distal Arthrogryposis (DA) who had congenital contractures, scoliosis, and short stature. Exome sequencing revealed that each affected person was homozygous for one of two different rare variants (c.470G>T, p.(Cys157Phe) or c.469T>C, p.(Cys157Arg)) affecting the same residue of myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF). In a seventh family, a c.487G>A,...
Paper Details
Title
Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis
Published Date
May 8, 2020
Journal
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