Ontology highlight
ABSTRACT:
SUBMITTER: Accorsi A
PROVIDER: S-EPMC7010923 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Accorsi Anthony A Cramer Megan L ML Girgenrath Mahasweta M
Frontiers in molecular neuroscience 20200204
<i>LAMA2</i>-related congenital muscular dystrophy, also known as MDC1A, is caused by loss-of-function mutations in the alpha2 chain of Laminin-211. Loss of this protein interrupts the connection between the muscle cell and its extracellular environment and results in an aggressive, congenital-onset muscular dystrophy characterized by severe hypotonia, lack of independent ambulation, and early mortality driven by respiratory complications and/or failure to thrive. Of the pathomechanisms of MDC1A ...[more]