Electrophysiological findings in X-linked myopathy with excessive autophagy

被引：10
|
作者：
Jääskeläinen, SK
Juel, VC
Udd, B
Villanova, M
Liguori, R
Minassian, BA
Falck, B
Niemi, P
Kalimo, H
机构：
[1] Turku Univ, Cent Hosp, Dept Clin Neurophysiol, FIN-20521 Turku, Finland
[2] Univ Virginia, Sch Med, Dept Neurol, Charlottesville, VA 22908 USA
[3] Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland
[4] Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy
[5] Univ Bologna, Inst Clin Neurol, Bologna, Italy
[6] Univ Toronto, Toronto, ON, Canada
[7] Hosp Sick Children, Dept Genet, Toronto, ON M5G 1X8, Canada
[8] Hosp Sick Children, Dept Pediat, Div Neurol, Toronto, ON M5G 1X8, Canada
[9] Turku Univ, Cent Hosp, Dept Radiol, Turku, Finland
[10] Univ Turku, Cent Hosp, Dept Pathol, FIN-20520 Turku, Finland
来源：
ANNALS OF NEUROLOGY | 2002年 / 51卷 / 05期
关键词：
D O I：
10.1002/ana.10173
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report electrophysiological features and magnetic resonance imaging muscle findings in 4 patients and I female carrier of X-linked myopathy with excessive autophagy. Motor units were polyphasic with high mean amplitude and normal duration. The thigh muscles were most severely involved, but myotonic discharges were abundant in both clinically affected and unaffected muscles. Along with the clinicopathological features, these electrophysiological findings distinguish X-linked myopathy with excessive autophagy from other limb-girdle myopathies.
引用
收藏
页码：648 / 652
页数：5
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