Vissing J, Salamon M B, Arlien-Søborg P, Nørby S, Manta P, DiMauro S, Schmalbruch H
Department of Neurology, Copenhagen Muscle Research Center, Rigshospitalet, University of Copenhagen, Denmark.
Neurology. 1998 Jun;50(6):1875-8. doi: 10.1212/wnl.50.6.1875.
A 30-year-old woman with a novel heteroplasmic U4409C mtDNA mutation in the tRNA(Met) gene presented with growth retardation, muscle weakness, severe exercise intolerance, and lactic acidosis. Muscle biopsy showed unusually severe dystrophic features. The mutation was not present in maternal relatives or 25 healthy subjects. Single-fiber PCR-RFLP analysis of mtDNA showed higher proportion of the mutation in COX-negative than in COX-positive muscle fibers.
一名30岁女性，其tRNA(Met)基因存在一种新的异质性U4409C线粒体DNA突变，表现为生长发育迟缓、肌肉无力、严重运动不耐受和乳酸性酸中毒。肌肉活检显示出异常严重的营养不良特征。该突变在其母系亲属或25名健康受试者中均未出现。线粒体DNA的单纤维PCR-RFLP分析显示，COX阴性肌纤维中的突变比例高于COX阳性肌纤维。
