1. Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
- Author
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Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Lévy N, and Pellissier JF
- Subjects
- Aged, Amino Acid Substitution, Biopsy, Caveolin 3, Creatine Kinase blood, Creatine Kinase, MM Form, Dysferlin, Exons genetics, Female, Humans, Isoenzymes blood, Muscle Proteins deficiency, Muscle, Skeletal pathology, Muscular Dystrophies enzymology, Muscular Dystrophies pathology, Polymerase Chain Reaction, Caveolins genetics, Membrane Proteins, Muscular Dystrophies genetics, Mutation, Missense, Point Mutation
- Abstract
The authors report a 71-year-old woman with limb-girdle muscular dystrophy (LGMD) associated with an R27Q mutation in the CAV3 gene. Immunohistochemistry showed a >90% reduction of caveolin-3 on the sarcolemma by western blot, and anti-dysferlin immunoreactivity was reduced. This case emphasizes that an R27Q missense mutation in the CAV3 gene can lead to various clinical phenotypes including hyperCKemia, rippling muscle disease, distal myopathy, and LGMD1C.
- Published
- 2003
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