期刊
NEUROLOGY
卷 57, 期 12, 页码 2298-2301出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.57.12.2298
关键词
-
In the muscle biopsy of a female patient with chronic progressive external ophthalmoplegia (CPEO), myopathy, and exercise intolerance, the heteroplasmic deletion of a single nucleotide (Delta T5885) in the mitochondrial tRNA tyrosine gene (tRNA Tyr) was found. The mutation was associated with the mitochondrial phenotype of individual muscle fibers, sug- gesting a causal association of Delta T5885 with the mitochondrial disease phenotype. The microdeletion was absent from the patient's and her relatives' blood, indicating a spontaneous somatic origin.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据