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Neuromuscul Disord. 2006 Aug;16(8):507-9. Epub 2006 Aug 21.

SANDO: two novel mutations in POLG1 gene.

Author information

1
Hospital de Sao Joao, Neurologia, Department of Neurology, Porto, Portugal. miguelfgago@yahoo.com

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.

PMID:
16919951
DOI:
10.1016/j.nmd.2006.05.016
[Indexed for MEDLINE]

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