Abstract
Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutations in the CAPN3 gene and complete lack of functional calpain 3 leads to the most severe muscle wasting. Calpain 3 is suggested to be involved in maturation of contractile elements after muscle degeneration. The aim of this study was to investigate how mutations in the four functional domains of calpain 3 affect muscle regeneration.
| Original language | English |
|---|---|
| Journal | B M C Musculoskeletal Disorders |
| Volume | 13 |
| Pages (from-to) | 43-53 |
| Number of pages | 11 |
| ISSN | 1471-2474 |
| DOIs | |
| Publication status | Published - 2012 |
Keywords
- Adolescent
- Adult
- Apoptosis
- Biological Markers
- Biopsy
- Blotting, Western
- Calpain
- Denmark
- Dystrophin
- Female
- Genetic Predisposition to Disease
- Humans
- Immunohistochemistry
- Linear Models
- Male
- Middle Aged
- Muscle Proteins
- Muscle, Skeletal
- Muscular Dystrophies, Limb-Girdle
- Muscular Dystrophy, Duchenne
- Mutation
- MyoD Protein
- Myogenin
- Myosin Heavy Chains
- Phenotype
- Proteins
- Regeneration
- Severity of Illness Index
- Vimentin
- Young Adult
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