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Xu, R. Neuropathy, Ataxia, and Retinitis Pigmentosa. Encyclopedia. Available online: https://encyclopedia.pub/entry/4587 (accessed on 21 September 2026).
Xu R. Neuropathy, Ataxia, and Retinitis Pigmentosa. Encyclopedia. Available at: https://encyclopedia.pub/entry/4587. Accessed September 21, 2026.
Xu, Rita. "Neuropathy, Ataxia, and Retinitis Pigmentosa" Encyclopedia, https://encyclopedia.pub/entry/4587 (accessed September 21, 2026).
Xu, R. (2020, December 24). Neuropathy, Ataxia, and Retinitis Pigmentosa. In Encyclopedia. https://encyclopedia.pub/entry/4587
Xu, Rita. "Neuropathy, Ataxia, and Retinitis Pigmentosa." Encyclopedia. Web. 24 December, 2020.
Neuropathy, Ataxia, and Retinitis Pigmentosa
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/neuropathy-ataxia-and-retinitis-pigmentosa

Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system.

genetic conditions

References

  1. Chowers I, Lerman-Sagie T, Elpeleg ON, Shaag A, Merin S. Cone and roddysfunction in the NARP syndrome. Br J Ophthalmol. 1999 Feb;83(2):190-3.
  2. Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, SchaeferAM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M,Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarlandR. Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial diseasecohort study. Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525.
  3. 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>Gmitochondrial DNA mutation: a clinical, genetic and neuropathological study. ActaNeuropathol. 2006 Jun;111(6):610-6.
  4. Thorburn DR, Rahman J, Rahman S. Mitochondrial DNA-Associated Leigh Syndromeand NARP. 2003 Oct 30 [updated 2017 Sep 28]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1173/
  5. Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M.Mitochondrial disease associated with the T8993G mutation of the mitochondrialATPase 6 gene: a clinical, biochemical, and molecular study in six families. JNeurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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