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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.
- Source :
-
Nature genetics [Nat Genet] 1995 Nov; Vol. 11 (3), pp. 266-73. - Publication Year :
- 1995
-
Abstract
- The dystrophin associated proteins (DAPs) are good candidates for harboring primary mutations in the genetically heterogeneous autosomal recessive muscular dystrophies (ARMD). The transmembrane components of the DAPs can be separated into the dystroglycan and the sarcoglycan complexes. Here we report the isolation of cDNAs encoding the 43 kD sarcoglycan protein beta-sarcoglycan (A3b) and the localization of the human gene to chromosome 4q12. We describe a young girl with ARMD with truncating mutations on both alleles. Immunostaining of her muscle biopsy shows specific loss of the components of the sarcoglycan complex (beta-sarcoglycan, alpha-sarcoglycan (adhalin), and 35 kD sarcoglycan). Thus secondary destabilization of the sarcoglycan complex may be an important pathophysiological event in ARMD.
- Subjects :
- Amino Acid Sequence
Animals
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 4
Cloning, Molecular
Cytoskeletal Proteins chemistry
DNA, Complementary isolation & purification
Dystroglycans
Female
Genes, Recessive
Humans
Immunohistochemistry
Infant
Membrane Glycoproteins chemistry
Molecular Sequence Data
Muscles chemistry
Mutation
RNA, Messenger chemistry
Rabbits
Tissue Distribution
Cytoskeletal Proteins genetics
Membrane Glycoproteins genetics
Muscular Dystrophies genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 11
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 7581449
- Full Text :
- https://doi.org/10.1038/ng1195-266