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一种与亚洲家族性隐性先天性肌病和显性恶性高热相关的RYR1突变。

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

作者信息

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

机构信息

MH Investigation Unit, Academic Unit Anaesthesia, St. James's University Hospital, Leeds LS9 7TF, UK.

出版信息

Muscle Nerve. 2009 Oct;40(4):633-9. doi: 10.1002/mus.21397.

DOI:10.1002/mus.21397
PMID:19645060
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.

摘要

在本研究中，我们报告了3个患有恶性高热（MH）的家族，所有家族成员均来自印度次大陆。对每个家族中的一名个体进行了RYR1基因的全序列测序，结果显示存在非同义突变c.11315G>A/p.R3772Q。当c.11315*A以纯合状态存在时，与肌病症状相关。

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