Journal article
Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain‐3 Deficiency
Abstract
Limb-girdle muscular dystrophy Type 2A/R1 or calpain-3 deficiency is the most common autosomal recessive limb-girdle muscular dystrophy. However, in recent years, autosomal dominant cases and families with calpain-3 deficiency have been reported, and there is an emerging interest in looking for single variants in the calpain-3 gene in mildly to moderately affected patients with limb-girdle muscular dystrophy without biallelic gene variants in C…
Authors
Krag T; Nasho E; Brady L; Verebi C; Leturcq F; Malfatti E; Duno M; Tarnopolsky M; Vissing J
Journal
Human Mutation, Vol. 2025, No. 1,
Publisher
Wiley
Publication Date
January 2025
DOI
10.1155/humu/9301465
ISSN
1059-7794