Genetic Conditions > neuropathy, ataxia, and retinitis pigmentosa >

References

These sources were used to develop the Genetics Home Reference condition summary on neuropathy, ataxia, and retinitis pigmentosa.

Chowers I, Lerman-Sagie T, Elpeleg ON, Shaag A, Merin S. Cone and rod dysfunction in the NARP syndrome. Br J Ophthalmol. 1999 Feb;83(2):190-3. PubMed citation
Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP
Rojo A, Campos Y, Sánchez JM, Bonaventura I, Aguilar M, García A, González L, Rey MJ, Arenas J, Olivé M, Ferrer I. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study. Acta Neuropathol. 2006 Jun;111(6):610-6. Epub 2006 Mar 9. PubMed citation
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. PubMed citation

Reviewed: November 2006

Published: June 17, 2013