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- Danielle Carpenter, Azzam Ismail, Rachel L Robinson, Christopher Ringrose, Patrick Booms, David E Iles, P Jane Halsall, Derek Steele, Marie-Anne Shaw, and Philip M Hopkins.
- MH Investigation Unit, Academic Unit Anaesthesia, St. James's University Hospital, Leeds LS9 7TF, UK. danielle.carpenter@nottingham.ac.uk
- Muscle Nerve. 2009 Oct 1; 40 (4): 633-9.
AbstractIn this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms.
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