Ontology highlight
ABSTRACT:
SUBMITTER: Cauley ES
PROVIDER: S-EPMC7667317 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Cauley Edmund S ES Pittman Alan A Mummidivarpu Swati S Karimiani Ehsan G EG Martinez Samantha S Moroni Isabella I Boostani Reza R Podini Daniele D Mora Marina M Jamshidi Yalda Y Hoffman Eric P EP Manzini M Chiara MC
Molecular genetics & genomic medicine 20200916 11
<h4>Background</h4>Congenital muscular dystrophy type 1A (MDC1A), also termed merosin-deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found in the Leiden Open Variant Database, the majority are truncating mutations leading to complete LAMA2 loss of function, but multiple copy number variants (CNVs) have also been reported with variable frequency.<h4>Methods</h4>We collected ...[more]