| Literature DB >> 16919951 |
Miguel Fernandes Gago1, M J Rosas, Joana Guimarães, Mariana Ferreira, Laura Vilarinho, Lígia Castro, Stirling Carpenter.
Abstract
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.Entities:
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Year: 2006 PMID： 16919951 DOI： 10.1016/j.nmd.2006.05.016
Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296