Thyagarajan D, Byrne E, Noer S, Lertrit P, Utthanophol P, Kapsa R, Marzuki S
Department of Neurology, St. Vincent's Hospital, Victoria, Australia.
Ann Neurol. 1991 Nov;30(5):724-7. doi: 10.1002/ana.410300514.
Mitochondrial genetic modifying factors have been suspected in several autosomally inherited diseases. The congenital variant of myotonic dystrophy, in which there is striking maternal inheritance pattern, is a likely candidate disease. To investigate this possibility, we sequenced completely the mitochondrial genome in 2 patients with congenital myotonic dystrophy. Comparison of the two sequences with control data failed to reveal a specific nucleotide variant or length variant in this disease. We conclude that a mitochondrial genetic modifying factor is not present in congenital myotonic dystrophy.
线粒体遗传修饰因子已被怀疑与几种常染色体隐性遗传病有关。先天性肌强直性营养不良的先天性变体具有明显的母系遗传模式，是一种可能的候选疾病。为了研究这种可能性，我们对2例先天性肌强直性营养不良患者的线粒体基因组进行了全序列测定。将这两个序列与对照数据进行比较，未能在该疾病中发现特定的核苷酸变体或长度变体。我们得出结论，先天性肌强直性营养不良不存在线粒体遗传修饰因子。
