先天性肌肉萎缩症。

Zhonghua yi xue za zhi = Chinese medical journal; Free China ed Pub Date : 2016-04-30 DOI:10.5580/e3d

F. Huang, S. Mak, C. Chi

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引用次数: 61

摘要

先天性肌营养不良症(CMD)是一种罕见的异质性疾病，见于东方人群，尤其是西方类型的CMD。我们报告一例1岁的婴儿谁提出了早发性张力低下，肌肉无力，运动发育迟缓和智力正常。肌肉活检显示肌纤维营养不良。高肌酸激酶(CK)水平，主要是MM型，也被注意到。脑部图像的进一步研究显示，白质区域出现了高强度病变。患者表现出CMD的临床和实验室特征，更有可能是西方型。建议进一步的遗传或组织病理学研究，特别是merosin调查，以改进分类和预后预测。

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Congenital muscular dystrophy.

Defect: Type of CMD: Extracellular matrix protein defects: • Laminin-alpha2-deficient CMD (MDC1A) • Ullrich CMD (UCMD 1, 2, 3) Integrin-alpha7 deficiency (ITGA7) Glycosyltransferases (abnormal Oglycosation of alpha-dystroglycan) • Walker-Warburg syndrome • MEB disease • Fukuyama CMD (FCMD) • CMD + secondary laminin deficiency 1 (MDC1B) • CMD + secondary laminin deficiency 2 (fukitin related protein deficiency, MDC1C) • CMD with mental retardation and pachygyria (mutation in LARGE, MDC1D) Proteins of the endoplasmic reticulum – rigid-spine syndrome (RSMD1)

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Zhonghua yi xue za zhi = Chinese medical journal; Free China ed

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