Toth Cory, Dunham Chris, Suchowersky Oksana, Parboosingh Jillian, Brownell Keith
Department of Clinical Neurosciences, University of Calgary, , Calgary, Alberta T2N 4N1, Canada.
Muscle Nerve. 2007 Feb;35(2):259-64. doi: 10.1002/mus.20685.
Myotonic dystrophy type 2 (DM2) is a multisystem degenerative disorder with distinctive clinical and electrophysiological features. Recently, genetic confirmation has become available with the identification of the molecular defect, an expansion of a CCTG repeat located in intron 1 of the zinc finger protein 9 (ZNF9) gene. We present two first-degree relatives with an athletic clinical phenotype, pathological evidence of subsarcolemmal vacuolation, and molecular genetic confirmation of DM2. When found in the proper clinical context, athleticism and pathological subsarcolemmal vacuoles should not dissuade the clinician from the possible diagnosis of DM2.
2型强直性肌营养不良症（DM2）是一种具有独特临床和电生理特征的多系统退行性疾病。最近，随着分子缺陷的发现，即位于锌指蛋白9（ZNF9）基因第1内含子中的CCTG重复序列的扩增，实现了基因确诊。我们报告了两名一级亲属，他们具有运动型临床表型、肌膜下空泡形成的病理证据以及DM2的分子遗传学确诊。在适当的临床背景下发现时，运动能力和肌膜下空泡不应阻止临床医生做出DM2的可能诊断。
