Thyagarajan D, Byrne E, Noer S, Lertrit P, Utthanophol P, Kapsa R, Marzuki S
Department of Neurology, St Vincent's Hospital, Melbourne, Australia.
Acta Neurol Scand. 1993 Jan;87(1):32-6. doi: 10.1111/j.1600-0404.1993.tb04071.x.
Mitochondrial DNA (mtDNA) deletions have been noted in small quantities in a handful of atypical cases of myotonic dystrophy and there are clinical and pathological parallels between this autosomal dominant disease and certain mitochondrial myopathies where such deletions are well recognised. We studied 20 individuals from typical pedigrees of myotonic dystrophy (of whom 19 were clinically affected) with Southern blot analysis, and 2 of the affected individuals with PCR analysis of mtDNA, but were unable to demonstrate the previously noted deletions in any quantity by either method. We conclude that especially in view of known naturally occurring large scale and minor length variants in mtDNA, these previous findings are of dubious relevance to the disease.
在少数强直性肌营养不良的非典型病例中已发现少量线粒体DNA（mtDNA）缺失，并且这种常染色体显性疾病与某些线粒体肌病在临床和病理上存在相似之处，在这些线粒体肌病中此类缺失已得到充分认识。我们用Southern印迹分析法研究了来自典型强直性肌营养不良家系的20名个体（其中19名有临床症状），并用PCR分析法研究了2名患病个体的mtDNA，但两种方法均未能检测到任何数量的先前报道的缺失。我们得出结论，尤其是考虑到mtDNA中已知的自然发生的大规模和小长度变异，这些先前的发现与该疾病的相关性存疑。
