桑多：POLG1基因中的两个新突变。
SANDO: two novel mutations in POLG1 gene.
作者信息
Gago Miguel Fernandes, Rosas M J, Guimarães Joana, Ferreira Mariana, Vilarinho Laura, Castro Lígia, Carpenter Stirling
机构信息
Hospital de Sao Joao, Neurologia, Department of Neurology, Porto, Portugal.
出版信息
Neuromuscul Disord. 2006 Aug;16(8):507-9. doi: 10.1016/j.nmd.2006.05.016. Epub 2006 Aug 21.
Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial phenotype first reported in 1997 in association with multiple mitochondrial DNA deletions and mutations in POLG1 or more rarely in the C10orf2 (twinkle-helicase) gene. We report a 44-year-old man with SANDO who harboured two novel mutations (P648R/R807C) in the POLG1 gene.
感觉性共济失调伴神经病、构音障碍和眼肌麻痹是SANDO的临床三联征，SANDO是一种特殊的线粒体表型，于1997年首次报道，与多个线粒体DNA缺失以及POLG1基因的突变相关，更罕见的是与C10orf2（闪烁解旋酶）基因的突变相关。我们报告了一名患有SANDO的44岁男性，其POLG1基因存在两个新的突变（P648R/R807C）。
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