𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Splicing mutation in dysferlin produces
✍ McNally, Elizabeth M.; Ly, Chantal T.; Rosenmann, Hanna; Mitrani Rosenbaum, Stel πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 56 KB πŸ‘ 1 views

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

Intrafamilial phenotypic variation in li
✍ A. Takano; C.G. BΓΆnnemann; H. Honda; M. Sakai; C.A. Feener; L.M. Kunkel; G. Sobu πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 864 KB

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

Homozygous Ξ±-sarcoglycan mutation in two
✍ Corrado Angelini; Marina Fanin; Elisabetta Menegazzo; Maria Pia Freda; David J. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 324 KB

We describe a couple of siblings who have a homozygous mutation in the ␣-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