Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A

Neurology

Volumn 56, Issue 5, 2001, Pages 692-693

  Talim, B ^a   Ognibene, A ^a   Mattioli, E ^a   Richard, I ^b   Anderson, L V B ^c   Merlini, L ^a  

^a RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^b GÉNÉTHON   (France)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN; CALPAIN 3; CREATINE KINASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 2A; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0035852977     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.5.692-a     Document Type: Article

References (7)

1. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
2. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island
3. Making sense of the limb-girdle muscular dystrophies
4. Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A
5. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins
6. Calpainopathy-a survey of mutations and polymorphisms
7. Diagnostic protein expression in human muscle biopsies