Condition: Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency


rs1415944134 in LAMA2 gene and Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency PMID 30301903 2018 Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.

PMID 20207543 2010 Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

rs914395925 in LOC102723409;LAMA2 gene and Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency PMID 24225367 2014 High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.

PMID 30055037 2018 LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.