Variant: rs147077184

present in Gene: LAMA2 present in Chromosome: 6 Position on Chromosome: 129349348 Alleles of this Variant: C/T

rs147077184 in LAMA2 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 PMID 21953594 2011 Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.

PMID 24957499 2014 Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.