Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. [electronic resource]
Producer: 20070416Description: 157-62 p. digitalISSN:- 0960-8966
- Adolescent
- Blotting, Western
- Codon, Nonsense -- physiology
- DNA -- biosynthesis
- Dysferlin
- Electrophoresis, Polyacrylamide Gel
- Female
- Heterozygote
- Humans
- Hypertrophy
- Immunohistochemistry
- Leg -- pathology
- Membrane Proteins -- genetics
- Muscle Fibers, Skeletal -- pathology
- Muscle Proteins -- genetics
- Muscle, Skeletal -- pathology
- Muscular Dystrophies, Limb-Girdle -- genetics
- Phenotype
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Publication Type: Case Reports; Journal Article
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