埃默里-德赖富斯肌营养不良症：一项临床病理研究。
Emery dreifuss muscular dystrophy: a clinico-pathological study.
作者信息
Gayathri N, Taly A B, Sinha S, Suresh T G, Gorai D
机构信息
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.
出版信息
Neurol India. 2006 Jun;54(2):197-9.
PMID:16804269
Abstract
Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.
摘要
埃默里-德赖富斯肌营养不良症（EDMD）是一种罕见的、具有遗传异质性的疾病。我们报告了两名患有X连锁埃默里蛋白缺乏型EDMD的患者以及两名可能患有EDMD的患者，他们具有典型的早期挛缩、进行性肌肉无力和心脏受累症状。其中一例有家族病史。所有患者的肌肉活检均显示出营养不良的特征。
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