NARP syndrome

Definition:

Neuropathy ataxia and retinis pigmentosa (NARP syndrome) is a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. Point mutations of the mitochondrial DNA ATPase 6 gene cause this disease.

References:

[1]. Jeffrey M Gelfand, et al. Heterogeneous patterns of tissue injury in NARP syndrome. J Neurol. 2011 Mar;258(3):440-8. [Content Brief]

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