使用cDNA探针鉴别贝克型肌营养不良症与肢带型肌营养不良症及库格尔贝格-韦兰德病。

Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe.

作者信息

Laing N G, Mears M E, Thomas H E, Chandler D C, Layton M G, Goldblatt J, Kakulas B A

机构信息

Department of Neuropathology, Royal Perth Hospital, Perth, WA.

出版信息

Med J Aust. 1990 Mar 5;152(5):270-1. doi: 10.5694/j.1326-5377.1990.tb120926.x.

DOI:10.5694/j.1326-5377.1990.tb120926.x

PMID:2255288

Abstract

A 31-year-old man previously investigated for a neuromuscular disorder was diagnosed as having either limb-girdle dystrophy, spinal muscular atrophy, or Becker muscular dystrophy. Extensive clinical and special neurological investigations failed to clarify this differential diagnosis. However, recent DNA studies have shown a deletion of the dystrophin gene, thereby providing an unequivocal diagnosis of Becker muscular dystrophy. The application of molecular genetic techniques in the diagnosis of inherited neuromuscular disorders is discussed.

摘要

一名31岁男性曾因神经肌肉疾病接受检查，被诊断为肢带型肌营养不良、脊髓性肌萎缩症或贝克型肌营养不良症。广泛的临床和特殊神经学检查未能明确这一鉴别诊断。然而，最近的DNA研究显示肌营养不良蛋白基因存在缺失，从而明确诊断为贝克型肌营养不良症。本文讨论了分子遗传学技术在遗传性神经肌肉疾病诊断中的应用。