Article
Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 May 2018
Lemoine Sandrine, Panaye Marine, Rabeyrin Maud, Errazuriz-Cerda Elisabeth, Mousson de Camaret Bénédicte, Petiot Philippe, Juillard Laurent, Guebre-Egziabher Fitsum
Abstract excerpt
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at age 21 years. Mutations of mitochondrial DNA (mtDNA) are maternally inherited and lead to mitochondrial cytopathies with predominant neurologic manifestations:...
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