𝔖 Bobbio Scriptorium
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Systemic lupus erythematosus in Asia: is it more common and more severe?

✍ Scribed by THUMBOO, Julian ;WEE, Hwee-Lin


Book ID
109056425
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
76 KB
Volume
9
Category
Article
ISSN
0219-0494

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Central core disease due to recessive mu
✍ PatrΓ­cia M. Kossugue; JΓΊlia F. Paim; Monica M. Navarro; Helga C. Silva; Rita C. πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 198 KB

## Abstract Central core disease (CCD) is an autosomal‐dominant congenital myopathy, with muscle weakness and malignant hyperthermia (MH) susceptibility. We identified two of nine Brazilian CCD families carrying two mutations in the __RYR1__ gene. The heterozygous parents were clinically asymptomat