Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.

Evelina SiavrienėGunda PetraitytėBirutė BurnytėAušra MorkūnienėVioleta MikštienėTautvydas RančelisAlgirdas UtkusVaidutis KučinskasEglė Preikšaitienė

Published in: BMC musculoskeletal disorders (2021)

Based on the results of our study and the literature we reviewed, both c.598_612del and c.1746-20C > G variants are pathogenic and together cause LGMDR1. Therefore, extensive mRNA and/or cDNA analysis of splicing variants is critical to understand the pathogenesis of the disease.

Keyphrases

muscular dystrophy
duchenne muscular dystrophy
copy number
systematic review
early onset
gene expression
intellectual disability