SANDO: Two novel mutations in POLG1 gene

被引：35

作者：

Gago, Miguel Fernandes ^{[1
]}

Rosas, M. J. ^{[1
]}

Guirnaraes, Joana ^{[1
]}

Ferreira, Mariana ^{[1
]}

Vilarinho, Laura ^{[1
]}

Castro, Ligia ^{[1
]}

Carpenter, Stirling ^{[1
]}

机构：

[1] Hosp Sao Joao, Dept Neurol, Oporto, Portugal

来源：

NEUROMUSCULAR DISORDERS | 2006年 / 16卷 / 08期

关键词：

SANDO; sensory ataxic neuropathy; dysarthria; ophthalmoparesis; POLG1; gene;

D O I：

10.1016/j.nmd.2006.05.016

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 POLGI 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 POLGI gene. (C) 2006 Elsevier B.V. All rights reserved.

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页码：507 / 509

页数：3

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