RYR1 Mutations, Exertional Myalgia and Rhabdomyolysis

Investigators at Guy’s & St Thomas’ Hospital, London, UK, and other centers sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia and identified 9 heterozygous RYR1 mutations in 14 families, 5 of them previously associated with malignant hyperthermia (MH).

Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2013-07-01
Series:Pediatric Neurology Briefs
Subjects:
Online Access:https://www.pediatricneurologybriefs.com/articles/399