article_metadata: Natalia Diaz-Lombana Lorena Diaz-Ordoñez Juan David Gutierrez-Medina Harry Pachajoa
article_metadata: 10.3389/fgene.2023.1158350
article_metadata: Front Genet
article_metadata: 2023 Jun 20;14:1158350.
article_metadata: case report congenital muscular dystrophy type 1a exome sequencing laminin subunit alpha 2 lama2 mutation rare diseases sequence analysis
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37415604/
article_metadata: Case Reports
article_metadata: PMC10319579
article_metadata: 37415604
article_metadata: Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
article_metadata: 2023