Ontology highlight
ABSTRACT:
SUBMITTER: Reinhard JR
PROVIDER: S-EPMC5744687 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Reinhard Judith R JR Lin Shuo S McKee Karen K KK Meinen Sarina S Crosson Stephanie C SC Sury Maurizio M Hobbs Samantha S Maier Geraldine G Yurchenco Peter D PD Rüegg Markus A MA
Science translational medicine 20170601 396
<i>L</i><i>AMA2</i>-related muscular dystrophy (<i>LAMA2</i> MD or MDC1A) is the most frequent form of early-onset, fatal congenital muscular dystrophies. It is caused by mutations in <i>LAMA2</i>, the gene encoding laminin-α2, the long arm of the heterotrimeric (α2, β1, and γ1) basement membrane protein laminin-211 (Lm-211). We establish that despite compensatory expression of laminin-α4, giving rise to Lm-411 (α4, β1, and γ1), muscle basement membrane is labile in <i>LAMA2</i> MD biopsies. Con ...[more]