Different outcome of sarcoglycan missense mutation between human and mouse.

Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans). Sarcoglycans form a complex, which is an important part of the dystrophin-associated glycoprotein complex that protects sarcolemma aga...

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Bibliographic Details
Main Authors: Sara F Henriques, Cécile Patissier, Nathalie Bourg, Chiara Fecchio, Doriana Sandona, Justine Marsolier, Isabelle Richard
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5779665?pdf=render