NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50910
Abstract: CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of… read more here.
Keywords: capn3 roma; novel intronic; capn3; intronic capn3 ... See more keywords
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
Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb‐Girdel Muscular Dystropy Model
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DOI: 10.1111/cge.14330
Abstract: Limb‐girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a specific LGMD caused by a gene mutation encoding the calcium‐dependent neutral cysteine protease calpain‐3 (CAPN3). In our study, the compound heterozygosity with two… read more here.
Keywords: model; injury; capn3; homozygous mice ... See more keywords
A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Neuromuscular Diseases"
DOI: 10.1177/22143602241301658
Abstract: CAPN3 encodes a calcium-activated skeletal muscle-specific protease. Pathogenic variants in CAPN3 are associated with autosomal recessive and dominant limb-girdle muscular dystrophy. We report on three children and one adult from four unrelated Iraqi Jewish families,… read more here.
Keywords: capn3 variant; iraqi jewish; rare homozygous; homozygous capn3 ... See more keywords
Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.822563
Abstract: LGMDR1 is caused by mutations in the CAPN3 gene that encodes calpain 3 (CAPN3), a non-lysosomal cysteine protease necessary for proper muscle function. Our previous findings show that CAPN3 deficiency leads to reduced SERCA levels… read more here.
Keywords: muscle; serca levels; ubiquitin proteasome; protein ... See more keywords
Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2024.1410727
Abstract: Limb-girdle muscular dystrophy type 2A (LGMD R1 Calpain 3-Related, LGMD2A/R1), an autosomal recessive disorder, is characterized by progressive muscle weakness with a prominent presentation in the proximal limb girdle muscles. LGMD2A/R1, which is caused by… read more here.
Keywords: capn3; gene; mutation; limb girdle ... See more keywords