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- W2114898524 abstract "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. Muscle Nerve, 2009" @default.
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- W2114898524 date "2009-07-30" @default.
- W2114898524 modified "2023-10-15" @default.
- W2114898524 title "A <i>RYR1</i> mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families" @default.
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- W2114898524 doi "https://doi.org/10.1002/mus.21397" @default.
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