The Schwartz-Jampel syndrome. A minireview

被引：0

作者：

Berardinelli, A ^{[1
]}

Ginevra, OF ^{[1
]}

Lanzi, G ^{[1
]}

机构：

[1] Univ Pavia, IRCCS, Neurol Inst C Mondino Fdn, Child Neuropsychyatry Div, I-27100 Pavia, Italy

来源：

BASIC AND APPLIED MYOLOGY | 1997年 / 7卷 / 06期

关键词：

Schwartz-Jampel syndrome; chondrodystrophic myotonia; myotonic disorders; channellopathies;

D O I：

暂无

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

The Schwartz-Jampel Syndrome (SJS) is a very rare condition characterised by constant findings such as typical facial appearance, muscle hypertrophy and continuous muscle activity. Other findings are more or less frequently associated, especially skeletal abnormalities, including dwarfism or anyway short stature. The Authors review the literature about this condition analysing the clinical picture, the recent genetical findings, the electrophysiological and histopathological studies and the different patogenetical hypothesis.

引用

页码：363 / 367

页数：5

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