[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. [electronic resource]
Producer: 19980908Description: 905-11 p. digitalISSN:- 0210-0010
- Adolescent
- Adult
- Biopsy
- Child
- Child, Preschool
- Chromosomes, Human, Pair 13 -- genetics
- Consanguinity
- Cytoskeletal Proteins -- deficiency
- Dystrophin -- analysis
- Electromyography
- Female
- Genes, Recessive
- Genotype
- Humans
- Male
- Membrane Glycoproteins -- deficiency
- Muscle, Skeletal -- chemistry
- Muscular Dystrophies -- ethnology
- Pedigree
- Phenotype
- Point Mutation
- Roma -- genetics
- Sarcoglycans
- Scoliosis -- ethnology
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Publication Type: English Abstract; Journal Article; Research Support, Non-U.S. Gov't
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