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Calpainopathy-a survey of mutations and polymorphisms.

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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Richard I,Roudaut C,Saenz A,Pogue R,Grimbergen JE,Anderson LV,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,Bushby K,Bakker E,Lopez

doi

10.1086/302426

subject

Has Abstract

pub_date

1999-06-01 00:00:00

pages

1524-40

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)63655-6

journal_volume

64

pub_type

杂志文章

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