Refining the molecular characterization of calpainopathy (LGMD2A) patients

Introduction: Mutations in the gene CAPN3 are responsible for calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A), one of the most frequent forms of LGMD. The gene CAPN3 codes for calpain-3 (or CAPN3), a muscle-specific calcium-dependent protease functionally regulated via its autolytic...

Full description

Bibliographic Details
Main Author: Maia, Nuno (author)
Other Authors: Vieira, Emília (author), Santos, Rosário (author), Oliveira, Márcia E. (author)
Format: conferenceObject
Language:por
Published: 2012
Subjects:
Doenças Genéticas
CAPN3 gene
Calpainopatia
Calpaína 3
Distrofia Muscular das cinturas
Protein analysis
Functional tests
Online Access:http://hdl.handle.net/10400.18/652
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/652

Internet

http://hdl.handle.net/10400.18/652

Similar Items