Open AccessLimb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene
Author(s) -
Satish V. Khadilkar,
Chetan Chaudhari,
Rashna S Dastur,
Pradnya S Gaitonde,
Jayendra G Yadav
Publication year - 2016
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.175435
Subject(s) - limb girdle muscular dystrophy , genetics , mutation , exon , founder effect , muscular dystrophy , allele , compound heterozygosity , medicine , asymptomatic , genotype , gene mutation , phenotype , gene , biology , pathology , haplotype
Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation screening is the gold standard for diagnosis but is difficult as the gene is large and multiple mutations are known. This study evaluates the utility of two known founder mutations as a first-line diagnostic test for LGMD2A in the Agarwals.