Article
Distal motor neuropathy associated with novel EMILIN1 mutation.
Neurobiology of disease - 1 Apr 2020
Iacomino Michele, Doliana Roberto, Marchese Maria, Capuano Alessandra, Striano Pasquale, Spessotto Paola, Bosisio Giulia, Iodice Rosa, Manganelli Fiore, Lanteri Paola, Orsini Alessandro, Baldassari Simona, Baratto Serena, Fruscione Floriana, Prada Valeria, Broda Paolo, Tessa Alessandra, Bertocci Giulia, Schenone Angelo, Colombatti Alfonso, Minetti Carlo, Santorelli Filippo Maria, Zara Federico, Fiorillo Chiara
Abstract excerpt
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]...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.