SANDO: two novel mutations in POLG1 gene

Miguel Fernandes Gago; M J Rosas; Joana Guimarães; Mariana Ferreira; Laura Vilarinho; Lígia Castro; Stirling Carpenter

doi:10.1016/j.nmd.2006.05.016

SANDO: two novel mutations in POLG1 gene

Neuromuscul Disord. 2006 Aug;16(8):507-9. doi: 10.1016/j.nmd.2006.05.016. Epub 2006 Aug 21.

Authors

Miguel Fernandes Gago¹, M J Rosas, Joana Guimarães, Mariana Ferreira, Laura Vilarinho, Lígia Castro, Stirling Carpenter

Affiliation

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

PMID: 16919951
DOI: 10.1016/j.nmd.2006.05.016

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.

Publication types

Case Reports

MeSH terms

Acetylcarnitine / therapeutic use
Adult
Coenzymes
DNA Mutational Analysis
DNA Polymerase gamma
DNA-Directed DNA Polymerase / genetics*
Dysarthria / genetics
Hereditary Sensory and Autonomic Neuropathies / genetics*
Hereditary Sensory and Autonomic Neuropathies / metabolism
Hereditary Sensory and Autonomic Neuropathies / physiopathology
Humans
Male
Mitochondrial Myopathies / genetics*
Mitochondrial Myopathies / metabolism
Mitochondrial Myopathies / physiopathology
Muscle, Skeletal / metabolism
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Mutation / genetics*
Ophthalmoplegia / genetics
Peripheral Nerves / metabolism
Peripheral Nerves / pathology
Peripheral Nerves / physiopathology
Syndrome
Ubiquinone / analogs & derivatives
Ubiquinone / therapeutic use

Substances

Coenzymes
Ubiquinone
Acetylcarnitine
DNA Polymerase gamma
DNA-Directed DNA Polymerase
POLG protein, human
coenzyme Q10