Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations

被引：0

作者：

Kakisaka, Yosuke ^{[1
]}

Haginoya, Kazuhiro ^{[2
]}

Takahashi, Yuko ^{[3
]}

Ochiai, Tatsuhiro ^{[3
]}

Fujiwara, Ikuma ^{[1
]}

Kikuchi, Atsuo ^{[1
]}

Wakusawa, Keisuke

Kobayashi, Satoru

Kikuchi, Hirosato ^{[4
]}

Ichihara, Yasuko ^{[4
]}

Takahashi, Shinichiro ^{[5
]}

Nishino, Ichizo ^{[5
]}

机构：

[1] Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan

[2] Takuto Rehabil Ctr Children, Dept Pediat Neurol, Taihaku Ku, Sendai, Miyagi 9820241, Japan

[3] Takuto Rehabil Ctr Children, Dept Orthoped, Sendai, Miyagi 9820241, Japan

[4] Saitama Med Univ Hosp, Dept Anesthesiol, Saitama, Japan

[5] Natl Ctr Neurol & Psychiat, Dept Neuromuscular Res, Natl Inst Neurosci, Tokyo, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161A卷 / 01期

关键词：

CENTRAL CORE DISEASE;

D O I：

10.1002/ajmg.a.35678

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：234 / 235

页数：2

共 4 条

[1] A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation
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