Schwartz-Jampel syndrome

被引：10

作者：

Chandra, Sadanandavalli Retnaswami ^{[1
]}

Issac, Thomas Gregor ^{[2
]}

Gayathri, N. ^{[3
]}

Shivaram, Sumanth ^{[1
]}

机构：

[1] Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru 560029, Karnataka, India

[2] Natl Inst Mental Hlth & Neurosci, Dept Clin Neurosci, Bengaluru 560029, Karnataka, India

[3] Natl Inst Mental Hlth & Neurosci, Dept Neuropathol, Bengaluru 560029, Karnataka, India

来源：

JOURNAL OF PEDIATRIC NEUROSCIENCES | 2015年 / 10卷 / 02期

关键词：

Malignant hyperthermia; myotonia; Schwartz-Jampel syndrome;

D O I：

10.4103/1817-1745.159202

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.

引用

页码：169 / 171

页数：3

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