Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1999 Jun;64(6):1524-40.
doi: 10.1086/302426.

Calpainopathy-a survey of mutations and polymorphisms

I Richard  1 , C Roudaut, A Saenz, R Pogue, J E Grimbergen, L V Anderson, C Beley, A M Cobo, C de Diego, B Eymard, P Gallano, H B Ginjaar, A Lasa, C Pollitt, H Topaloglu, J A Urtizberea, M de Visser, A van der Kooi, K Bushby, E Bakker, A Lopez de Munain, M Fardeau, J S Beckmann
Affiliations

Calpainopathy-a survey of mutations and polymorphisms

I Richard et al. Am J Hum Genet. 1999 Jun.

Abstract

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 nonclassified 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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Hum Mol Genet. 1994 Feb;3(2):285-93 - PubMed
    1. C R Acad Sci III. 1991;312(4):141-8 - PubMed
    1. Cell. 1994 Aug 26;78(4):625-33 - PubMed
    1. Cell. 1995 Mar 10;80(5):675-9 - PubMed
    1. Cell. 1995 Apr 7;81(1):27-40 - PubMed

Publication types