Cagliani R, Bardoni A, Sironi M, Fortunato F, Prelle A, Felisari G, Bonaglia M C, D'Angelo M G, Moggio M, Bresolin N, Comi G P
IRCCS E Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842, Bosisio Parini (LC), Italy.
Neuromuscul Disord. 2003 Jan;13(1):13-6. doi: 10.1016/s0960-8966(02)00192-x.
Two muscle dystrophin transcripts and proteins were detected in a 17-year-old boy with a persistently elevated serum creatine kinase level. A decreased amount of full-length dystrophin and a 360 kDa polypeptide lacking the COOH-terminus were detectable in the patient's muscle biopsy; accordingly, transcript analysis revealed the expression of a wild type messenger RNA together with a shorter frameshifted one. No genomic DNA mutation was found and the presence of a somatic mosaicism was excluded. This dystrophinopathy may be caused by a novel dystrophin gene transcriptional defect, namely aberrant intraexonic splicing.
在一名血清肌酸激酶水平持续升高的17岁男孩中检测到两种肌营养不良蛋白转录本和蛋白质。在患者的肌肉活检中可检测到全长肌营养不良蛋白的量减少以及一种缺少COOH末端的360 kDa多肽；相应地，转录本分析显示野生型信使核糖核酸与较短的移码信使核糖核酸一起表达。未发现基因组DNA突变，并且排除了体细胞镶嵌现象的存在。这种肌营养不良蛋白病可能由一种新的肌营养不良蛋白基因转录缺陷引起，即外显子内异常剪接。
