眼咽型肌营养不良症中的GCG重复序列与表型

GCG repeats and phenotype in oculopharyngeal muscular dystrophy.

作者信息

Müller T, Schröder R, Zierz S

机构信息

Klinik und Poliklinik für Neurologie, Martin-Luther-Universität, Ernst-Grube-Str. 40, D-06097 Halle, Germany.

出版信息

Muscle Nerve. 2001 Jan;24(1):120-2. doi: 10.1002/1097-4598(200101)24:1<120::aid-mus17>3.0.co;2-0.

DOI:10.1002/1097-4598(200101)24:1<120::aid-mus17>3.0.co;2-0

PMID:11150975

Abstract

Short GCG repeat expansions in the PABP2 gene were recently shown to cause oculopharyngeal muscular dystrophy (OPMD) in French-Canadian and Italian pedigrees. We diagnosed OPMD in 16 German patients by the detection of GCG repeat expansions, confirming genetic homogeneity. Myopathic and neurogenic changes were found in skeletal muscle biopsies. Age of onset and severity of disease were not correlated with the number of repeats.

摘要

最近研究表明，PABP2基因中短GCG重复序列扩增会在法裔加拿大和意大利家系中引发眼咽型肌营养不良症（OPMD）。我们通过检测GCG重复序列扩增，确诊了16例德国患者患有OPMD，证实了基因同质性。在骨骼肌活检中发现了肌病性和神经源性改变。发病年龄和疾病严重程度与重复序列数量无关。