Distal motor neuropathy associated with novel EMILIN1 mutation
Abstract
Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins implicated in elastogenesis and cell proliferation. Recently, a missense mutation in the EMILIN1 gene has been associated with autosomal dominant connective tissue disorder and motor-sensory neuropathy in a single family. We identified by whole exome sequencing a novel heterozygous EMILIN1 mutation c.748C>T [p.R250C] located in the coiled coil forming...
Paper Details
Title
Distal motor neuropathy associated with novel EMILIN1 mutation
Published Date
Apr 1, 2020
Journal
Volume
137
Pages
104757 - 104757
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