CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24421
Abstract: The investigated intronic CAPN3 variant NM_000070.3:c.1746‐20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on 14 patients carrying the CAPN3… read more here.
Keywords: calpain related; 20c variant; capn3 1746; 1746 20c ... See more keywords
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report
Sign Up to like & getrecommendations! Published in 2021 at "BMC Musculoskeletal Disorders"
DOI: 10.1186/s12891-021-04920-3
Abstract: Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene are known genetic causes of… read more here.
Keywords: compound heterozygous; 598 612del; recessive limb; 1746 20c ... See more keywords