𝔖 Bobbio Scriptorium
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0261 Central core disease is due to RyR1 mutations in more than 90% of patients


Book ID
119466809
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
130 KB
Volume
238
Category
Article
ISSN
0022-510X

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Central core disease due to recessive mu
✍ Patrícia M. Kossugue; Júlia F. Paim; Monica M. Navarro; Helga C. Silva; Rita C. 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 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