Article
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
Cell - 7 Apr 1995
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C
Abstract excerpt
Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated. The autosomal recessive forms (LGMD2) constitute a genetically heterogeneous group with LGMD2A mapping to chromosome 15q15.1-q21.1. The gene encoding the muscle-specific cal...
Topics
- Amino Acid Sequence
- Base Sequence
- Calpain
- Chromosomes, Human, Pair 15
- DNA
- DNA Mutational Analysis
- Exons
- Gene Expression
- Genetic Testing
- Humans
- Models, Genetic
- Molecular Sequence Data
- Muscular Dystrophies
- Mutation
- Nucleic Acid Heteroduplexes
- Polymerase Chain Reaction
- Restriction Mapping
- Sequence Alignment