临床病例报告：一名患有DM1基因座91个CTG重复序列且有DM1家族史阳性的年轻女孩的非典型肌病。

Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history.

作者信息

Savić Dusanka, Keckarević Dusan, Branković-Srećković Vesna, Apostolski Slobodan, Todorović Slobodanka, Romac Stanka

机构信息

Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro.

出版信息

Int J Neurosci. 2006 Dec;116(12):1509-18. doi: 10.1080/00207450600553182.

DOI:10.1080/00207450600553182

PMID:17145685

Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant inheritable disease associated with an expansion of CTG repeats in the 3' UTR of the DMPK gene. The subject is an 11-year-old girl with atypical myopathy. Because the proband's family has a positive DM1 history, a molecular-genetic analysis for DM1 was performed. This study showed that proband had a small DMPK expansion (91 CTG repeats) although the observed myopathy would not normally be associated with DM1. These results show how the phenotypic manifestation of DM1 can have unusual symptoms with a completely unexpected relationship to genotype.

摘要

1型强直性肌营养不良症（DM1）是一种常染色体显性遗传病，与DMPK基因3'非翻译区CTG重复序列的扩增有关。该患者是一名患有非典型肌病的11岁女孩。由于先证者家族有DM1阳性病史，因此对其进行了DM1的分子遗传学分析。这项研究表明，先证者有一个小的DMPK扩增（91个CTG重复序列），尽管观察到的肌病通常与DM1无关。这些结果表明，DM1的表型表现如何会出现不寻常的症状，且与基因型有着完全意想不到的关系。