After studies which have mapped the -sarcoglycan deficient limb-girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. The deletion of exon 5 in the -sarcoglycan gene was found in a consanguineous family
Progressive dysphagia in limb-girdle muscular dystrophy type 2B
β Scribed by Richard Walsh; Fiona Hill; Niall Breslin; Sean Connolly; Francesca M. Brett; Richard Charlton; Rita Barresi; Dominick J. H. McCabe
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 151 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-639X
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Two Japanese-Brazilian siblings with type 2C limb girdle muscular dystrophy showed a maternal 521-T deletion in exon 6 and a larger paternal deletion of exon 6 in the β₯-sarcoglycan gene. One sib was ambulant at 29 years of age, whereas the other sib was confined to a wheelchair at the age of 12. Sar
## Abstract ## Objective Defects in glycosylation of Ξ±βdystroglycan are associated with several forms of muscular dystrophy, often characterized by congenital onset and severe structural brain involvement, collectively known as dystroglycanopathies. Six causative genes have been identified in thes