Article
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
Brain : a journal of neurology - 1 Jan 2012
Lax Nichola Z, Whittaker Roger G, Hepplewhite Philippa D, Reeve Amy K, Blakely Emma L, Jaros Evelyn, Ince Paul G, Taylor Robert W, Fawcett Peter R W, Turnbull Doug M
Abstract excerpt
Defects in the mitochondrial DNA replication enzyme, polymerase γ, are an important cause of mitochondrial disease with ∼25% of all adult diagnoses attributed to mutations in the POLG gene. Peripheral neuronopathy is often part of the clinical syndrome and can represent the most disabling feature. In spite of this, the molecular mechanisms underlying the neuronopathy remain to be elucidated and treatment...
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