Clinical spectrum of proximal myotonic myopathy (PROMM) syndrome

被引：0
|
作者：
Meola, G
Sansone, V
机构：
[1] Univ Milan, Div Neurol 1, Milan, Italy
[2] San Donato Hosp, Milan, Italy
来源：
BASIC AND APPLIED MYOLOGY | 1997年 / 7卷 / 05期
关键词：
proximal myotonic myopathy; myotonic dystrophy; neuromuscular disorders; myopathy;
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：
We studied 25 patients with proximal myotonic myopathy (PROMM) from 3 unrelated kindreds and present data on the clinical spectrum of this syndrome. Our data show that phenotypic expression and degree of multisystem involvement may vary widely between and within kindreds. In conclusion our results suggest clinical and genetic heterogeneity of PROMM syndromes.
引用
收藏
页码：317 / 320
页数：4
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