2型强直性肌营养不良的唯一表现:高肌酸激酶症

作     者：Merlini L. Sabatelli P. Columbaro M. R. Massa 谢琰臣 

作者机构：Dipartimento di Neuroscienze Universit'a di Roma Tor Vergata Via Montpellier 1 00133 Rome ItalyDr. 

出 版 物：《世界核心医学期刊文摘（神经病学分册）》 (Digest of the World Core Medical Journals:Clinical Neurology)

年 卷 期：2005年第1卷第9期

页      面：44-45页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：肌强直电位 肌营养不良 肌肉活检 基因突变 第一诊断 肌电图检查 临床症状 

摘      要：A 49-year-old man had an 8-year history of persistent, isolated elevation of serum creatine kinase (hyper-CK-emia) without muscle symptoms, and no electr omyographic evidence of myotonia; his muscle biopsy showed features reminiscent of myotonic dystrophy (DM), with morphometric findings consistent with those des cribed in DM type 2 (DM2). Genetic studies excluded mutations in the DM type 1 ( DM1) gene, but revealed a CCTG repeat expansion in the ZNF9 gene, which is assoc iated with DM2. Our data suggest that in asymptomatic patients with persistent h yper-CK-emia, DM2 should be considered in the differential diagnosis.