与线粒体DNA的ATP酶6基因中T9176C突变相关的 Leigh 综合征。
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
作者信息
Campos Y, Martín M A, Rubio J C, Solana L G, García-Benayas C, Terradas J L, Arenas J
机构信息
Centro de Investigación Hospital 12 de Octurbre, Madrid, Spain.
出版信息
Neurology. 1997 Aug;49(2):595-7. doi: 10.1212/wnl.49.2.595.
A child with clinical and neuroradiologic evidence of Leigh syndrome (LS) had the T-to-C transition at nt 9176 in the ATPase 6 gene of mtDNA. The mutation was homoplasmic in muscle and maternally inherited. The proband's mother had ataxia and harbored 93% of mutant genomes in blood, whereas three clinically unaffected maternal relatives had varying degrees of heteroplasmy in blood. These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene.
一名具有 Leigh 综合征（LS）临床和神经放射学证据的儿童，其线粒体 DNA（mtDNA）的 ATPase 6 基因第 9176 位核苷酸发生了 T 到 C 的转变。该突变在肌肉中是纯质的且为母系遗传。先证者的母亲患有共济失调，血液中含有 93%的突变基因组，而三名临床未受影响的母系亲属血液中存在不同程度的异质性。这些数据证实了 T9176C 突变与 LS 的关联，并扩展了 ATPase 6 基因突变的临床异质性。
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