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metadata.dc.type: Artigo
Title: Calpainopathy—A Survey of Mutations and Polymorphisms
Authors: Richard, Isabelle
Roudaut, Carinne
Saenz, Amets
Pogue, Robert
Grimbergen, J. E. M. A.
Anderson, Louise V. B.
Beley, Cyriaque
Cobo, A. M.
Diego, C. de
Eymard, Bruno
Gallano, Pia
Ginjaar, H. B.
Lasa, Adriana
Pollitt, Christine
Topaloglu, Haluk
Urtizberea, Jon Andoni
Visser, Mike de
Kooi, Aneeke J. Van der
Bushby, Katharine
Bakker, Egbert
Munain, Adolfo Lopez de
Fardeau, Michael
Beckmann, Jacques S.
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.
Citation: RICHARD, Isabelle et al. Calpainopathy - A Survey of Mutations and Polymorphisms. The American Journal Human Genetics, v. 64, p. 1524-1540, 1999.
metadata.dc.rights: Acesso Aberto
Issue Date: 1999
Appears in Collections:PPG - Revistas e Artigos Científicos

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