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A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

Research paper by Danielle D Carpenter, Azzam A Ismail, Rachel L RL Robinson, Christopher C Ringrose, Patrick P Booms, David E DE Iles, P Jane PJ Halsall, Derek D Steele, Marie-Anne MA Shaw, Philip M PM Hopkins

Indexed on: 01 Aug '09Published on: 01 Aug '09Published in: Muscle & Nerve



Abstract

In 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.