Distal motor neuropathy associated with novel EMILIN1 mutation

Distal motor neuropathy associated with novel EMILIN1 mutation

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...

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Main Authors: Michele Iacomino, Roberto Doliana, Maria Marchese, Alessandra Capuano, Pasquale Striano, Paola Spessotto, Giulia Bosisio, Rosa Iodice, Fiore Manganelli, Paola Lanteri, Alessandro Orsini, Simona Baldassari, Serena Baratto, Floriana Fruscione, Valeria Prada, Paolo Broda, Alessandra Tessa, Giulia Bertocci, Angelo Schenone, Alfonso Colombatti, Carlo Minetti, Filippo Maria Santorelli, Federico Zara, Chiara Fiorillo
Format: Article
Language:English
Published: Elsevier 2020-04-01
Series:Neurobiology of Disease
Subjects:
EMILIN1
Exome sequencing
Motor neuropathy
Danio rerio
Extracellular matrix
Fibroblast
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996120300322

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