线粒体DNA转移RNA突变Leu(UUR)A→G 3260：第二个患有肌病和心肌病的家系
Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy.
作者信息
Sweeney M G, Brockington M, Weston M J, Morgan-Hughes J A, Harding A E
机构信息
University Department of Clinical Neurology, Institute of Neurology, London, UK.
出版信息
Q J Med. 1993 Jul;86(7):435-8.
PMID:8210299
Abstract
A family with maternally inherited myopathy and cardiomyopathy is described. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 3260 in the leucine transfer RNA gene, previously reported in a large Italian family with a similar phenotype. This observation confirms pathogenicity of this mutation and suggests phenotypic specificity.
摘要
描述了一个患有母系遗传的肌病和心肌病的家族。线粒体DNA分析显示，亮氨酸转运RNA基因第3260位存在异质性点突变，此前在一个具有相似表型的意大利大家族中也有报道。这一观察结果证实了该突变的致病性，并提示了表型特异性。
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