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Lookup NU author(s): Dr Robert Pogue, Dr Louise VB Anderson, Emerita Professor Katherine Bushby
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Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family. This report represents a compilation of the mutations and variants identified so far in this gene. To date, 97 distinct pathogenic calpain 3 mutations have been identified (4 nonsense mutations, 32 deletions/insertions 8 splice-site mutations,and 53 missense mutations), 56 of which have not been described previously, together with 12 polymorphisms and 5 non-classified variants. The mutations are distributed along the entire length of the CAPN3 gene. Thus far, most mutations identified represent private variants, although particular mutations have been found more frequently. Knowledge of the mutation spectrum occurring in the CAPN3 gene may contribute significantly to structure/ function and pathogenesis studies. It may also help in the design of efficient mutation-screening strategies: for calpainopathies.
Author(s): Anderson LVB; Bushby K; Pogue R; Richard I; Roudaut C; Saenz A; Grimbergen JEMA; Beley C; Cobo AM; de Diego C; Eymard B; Gallano P; Ginjaar HB; Lasa A; Pollitt C; Topaloglu H; Urtizberea JA; de Visser M; van der Kooi A; Bakker E; de Munain AL; Fardeau M; Beckmann JS
Publication type: Article
Publication status: Published
Journal: American Journal of Human Genetics
Year: 1999
Volume: 64
Issue: 6
Pages: 1524-1540
Print publication date: 01/06/1999
ISSN (print): 0002-9297
ISSN (electronic): 1537-6605
Publisher: Cell Press
URL: http://dx.doi.org/10.1086/302426
DOI: 10.1086/302426
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