Calpainopathy-a survey of mutations and polymorphisms

Détails

ID Serval
serval:BIB_FCAC94C70F22
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Calpainopathy-a survey of mutations and polymorphisms
Périodique
American Journal of Human Genetics
Auteur(s)
Richard  I., Roudaut  C., Saenz  A., Pogue  R., Grimbergen  J. E., Anderson  L. V., Beley  C., Cobo  A. M., de Diego  C., Eymard  B., Gallano  P., Ginjaar  H. B., Lasa  A., Pollitt  C., Topaloglu  H., Urtizberea  J. A., de Visser  M., van der Kooi  A., Bushby  K., Bakker  E., Lopez de Munain  A., Fardeau  M., Beckmann  J. S.
ISSN
0002-9297 (Print)
Statut éditorial
Publié
Date de publication
06/1999
Volume
64
Numéro
6
Pages
1524-40
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jun
Résumé
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.
Mots-clé
Amino Acid Sequence Base Sequence Calpain/*genetics DNA Primers Genetic Screening Humans *Isoenzymes Molecular Sequence Data *Muscle Proteins Muscular Dystrophies/*genetics *Mutation, Missense Peptide Fragments/*genetics Phenotype *Polymorphism, Genetic
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 17:27
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