Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with Limb-Girdle Muscular Dystrophy 2B, a disorder that affects the proximal musculature. Despite the phenotypic differences, the types of
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy
β Scribed by Steven E. Boyden; Mustafa A. Salih; Anna R. Duncan; Alexander J. White; Elicia A. Estrella; Stephanie L. Burgess; Mohammed Z. Seidahmed; Abdullah S. Al-Jarallah; Hisham M. S. Alkhalidi; Waleed M. Al-Maneea; Richard R. Bennett; Salem H. Alshemmari; Louis M. Kunkel; Peter B. Kang
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 236 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1364-6745
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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
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We describe a couple of siblings who have a homozygous mutation in the β£-sarcoglycan gene and present a striking clinical difference in their phenotype; the brother is asymptomatic, and the sister is affected with mild limb-girdle muscular dystrophy. Drug therapy with a new steroid (deflazacort) was