Ontology highlight
ABSTRACT:
SUBMITTER: Domi T
PROVIDER: S-EPMC4560053 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Domi Teuta T Porrello Emanuela E Velardo Daniele D Capotondo Alessia A Biffi Alessandra A Tonlorenzi Rossana R Amadio Stefano S Ambrosi Alessandro A Miyagoe-Suzuki Yuko Y Takeda Shin'ichi S Ruegg Markus A MA Previtali Stefano Carlo SC
Skeletal muscle 20150903
<h4>Background</h4>Merosin-deficient congenital muscular dystrophy type-1A (MDC1A) is characterized by progressive muscular dystrophy and dysmyelinating neuropathy caused by mutations of the α2 chain of laminin-211, the predominant laminin isoform of muscles and nerves. MDC1A has no available treatment so far, although preclinical studies showed amelioration of the disease by the overexpression of miniagrin (MAG). MAG reconnects orphan laminin-211 receptors to other laminin isoforms available in ...[more]