Article
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.
Muscle & nerve - 1 Oct 2009
Carpenter Danielle, Ismail Azzam, Robinson Rachel L, Ringrose Christopher, Booms Patrick, Iles David E, Halsall P Jane, Steele Derek, Shaw Marie-Anne, Hopkins Philip M
Abstract excerpt
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.
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