ubiquinone and Hereditary-Sensory-and-Autonomic-Neuropathies

ubiquinone has been researched along with Hereditary-Sensory-and-Autonomic-Neuropathies* in 1 studies

Other Studies

1 other study(ies) available for ubiquinone and Hereditary-Sensory-and-Autonomic-Neuropathies

Article	Year
SANDO: two novel mutations in POLG1 gene. Neuromuscular disorders : NMD, 2006, Volume: 16, Issue:8 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. Topics: Acetylcarnitine; Adult; Coenzymes; DNA Mutational Analysis; DNA Polymerase gamma; DNA-Directed DNA Polymerase; Dysarthria; Hereditary Sensory and Autonomic Neuropathies; Humans; Male; Mitochondrial Myopathies; Muscle, Skeletal; Mutation; Ophthalmoplegia; Peripheral Nerves; Syndrome; Ubiquinone	2006

Article

Year

SANDO: two novel mutations in POLG1 gene.

Neuromuscular disorders : NMD, 2006, Volume: 16, Issue:8

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.

Topics: Acetylcarnitine; Adult; Coenzymes; DNA Mutational Analysis; DNA Polymerase gamma; DNA-Directed DNA Polymerase; Dysarthria; Hereditary Sensory and Autonomic Neuropathies; Humans; Male; Mitochondrial Myopathies; Muscle, Skeletal; Mutation; Ophthalmoplegia; Peripheral Nerves; Syndrome; Ubiquinone

2006