Distal motor neuropathy associated with novel EMILIN1 mutation

Volume: 137, Pages: 104757 - 104757
Published: Apr 1, 2020
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
Volume
137
Pages
104757 - 104757
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.