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A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene
Hong, D.1; Wang, Z.1; Zhang, W.1; Xi, J.2; Lu, J.2; Luan, X.1; Yuan, Y.1
关键词cardiomyopathy desmin desminopathy desmin-related myopathy myofibrillar myopathy
刊名NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
2011-04-01
DOI10.1111/j.1365-2990.2010.01112.x
37期:3页:257-270
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences ; Pathology
研究领域[WOS]Neurosciences & Neurology ; Pathology
关键词[WOS]MYOFIBRILLAR MYOPATHIES ; SKELETAL MYOPATHY ; RESTRICTIVE CARDIOMYOPATHY ; CARDIOSKELETAL MYOPATHY ; DILATED CARDIOMYOPATHY ; INTERMEDIATE-FILAMENTS ; ELECTRON-MICROSCOPY ; MUSCLE ; BLOCK ; INVOLVEMENT
英文摘要

Aims: Desminopathy is a hereditary cardiac and skeletal myopathy caused by mutations in the desmin gene. This study summarizes the clinical, myopathological and genetic features of a series of Chinese patients with desminopathy. Methods: Thirty-nine cases from five families with autosomal dominant inheritance and two sporadic cases were investigated. The majority of patients presented with mild myopathy and prominent cardiomyopathy. Fifteen of 16 deceased cases died of cardiac causes. Of the 25 patients alive, 24 patients developed cardiac abnormalities with disease progression. Muscle specimens from nine patients were investigated in various morphological examinations. Gene sequencing and cell transfections were performed to determine whether the mutant desmin formed intermediate filaments. Results: Muscle biopsies revealed 5 cases with dystrophy-like patterns and amorphous material deposits; four other cases showed myopathy-like patterns with cytoplasmic bodies or nemaline bodies. Desmin and multiple proteins aggregated in the affected fibres. Six novel mutations and one previously reported mutation in the desmin gene were identified in the patients. All the mutant desmin genes except E457V produced multiple desmin-positive clumps or abnormal solid large aggregates in transfected cells. Conclusions: This study enlarges the spectrum of desmin mutations and geographic distribution of desminopathy. Although many novel mutations were identified in Chinese patients, the main clinical and myopathological findings were similar to those in Caucasian patients. Cardiac conduction abnormalities were prominent and usually appeared later than skeletal myopathy. The myopathology exhibited some heterogeneity among our patients, but the pathological changes were not indicative of the mutation location in the desmin gene.

语种英语
WOS记录号WOS:000287589300003
引用统计
被引频次:17[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/67403
专题北京大学第一临床医学院_神经内科
作者单位1.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
2.Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R China
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Hong, D.,Wang, Z.,Zhang, W.,et al. A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene[J]. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY,2011,37(3):257-270.
APA Hong, D..,Wang, Z..,Zhang, W..,Xi, J..,Lu, J..,...&Yuan, Y..(2011).A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY,37(3),257-270.
MLA Hong, D.,et al."A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene".NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY 37.3(2011):257-270.
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