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Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy
Abstract
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotein, γ-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human γ-sarcoglycan gene was mapped to chromosome 13q12, and deletions that alter its reading frame were identified in three families and one of four sporadic cases of SCARMD. These mutations not only affect γ-sarcoglycan but also disrupt the integrity of the entire sarcoglycan complex.
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Cites
Dystrophin: the protein product of the Duchenne muscular dystrophy locus
Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1987) · Cell · doi:10.1016/0092-8674(87)90579-4 · Cited by 4,693
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Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
Michele, D. E., Barresi, R., Kanagawa, M., Saito, F., Cohn, R. D., Satz, J. S., Dollar, J., Nishino, I., Kelley, R. I., Somer, H., et al. (2002) · Nature · doi:10.1038/nature00837 · Cited by 779
Bashir, R., Britton, S., Strachan, T., Keers, S., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., et al. (1998) · Nature Genetics · doi:10.1038/1689 · Cited by 688
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Nigro, V., Moreira, E. D. S., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A. A., Passos-Bueno, M. R., & Zatz, M. (1996) · Nature Genetics · doi:10.1038/ng1096-195 · Cited by 423
Metadata
- Authors
- Noguchi, S., McNally, E. M., Othmane, K. B., Hagiwara, Y., Mizuno, Y., Yoshida, M., Yamamoto, H., Bönnemann, C. G., Gussoni, E., Denton, P. H., Kyriakides, T., Middleton, L., Hentati, F., Hamida, M. B., Nonaka, I., Vance, J. M., Kunkel, L. M., & Ozawa, E.
- Venue
- Science
- Published
- 1995-11-03
- Volume
- 270
- Issue
- 5237
- Pages
- 819-822
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2018096072
- Cited by
- 506
- References
- 1
- FWCI
- 14.21
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Noguchi, S., McNally, E. M., Othmane, K. B., Hagiwara, Y., Mizuno, Y., Yoshida, M., Yamamoto, H., Bönnemann, C. G., Gussoni, E., Denton, P. H., Kyriakides, T., Middleton, L., Hentati, F., Hamida, M. B., Nonaka, I., Vance, J. M., Kunkel, L. M., & Ozawa, E. (1995). Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy. Science. https://doi.org/10.1126/science.270.5237.819
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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