A RYR1 MUTATION ASSOCIATED WITH RECESSIVE CONGENITAL MYOPATHY AND DOMINANT MALIGNANT HYPERTHERMIA IN ASIAN FAMILIES

被引：20

作者：

Carpenter, Danielle ^{[1
]}

Ismail, Azzam ^{[2
]}

Robinson, Rachel L. ^{[1
]}

Ringrose, Christopher ^{[1
]}

Booms, Patrick ^{[3
]}

Iles, David E. ^{[3
]}

Halsall, P. Jane ^{[1
]}

Steele, Derek ^{[4
]}

Shaw, Marie-Anne ^{[3
]}

Hopkins, Philip M. ^{[1
]}

机构：

[1] St James Univ Hosp, MH Invest Unit, Acad Unit Anaesthesia, Leeds LS9 7TF, W Yorkshire, England

[2] Leeds Gen Infirm, Dept Histopathol, Leeds, W Yorkshire, England

[3] Univ Leeds, Fac Biol Sci, Inst Integrat & Comparat Biol, Leeds, W Yorkshire, England

[4] Univ Leeds, Fac Biol Sci, Inst Membrane & Syst Biol, Leeds, W Yorkshire, England

来源：

MUSCLE & NERVE | 2009年 / 40卷 / 04期

关键词：

Indian subcontinent; King-Denborough syndrome; malignant hyperthermia (MH); myopathy; RYR1; CENTRAL CORE DISEASE; MULTI-MINICORE DISEASE; INHERITANCE;

D O I：

10.1002/mus.21397

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 40: 633-639, 2009

引用

页码：633 / 639

页数：7

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