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NARP

Mitochondrial Disease Types

NARP

Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa

Cause: Mitochondrial DNA point mutations in genes associated with Complex V: T8993G, (also T8993C by some researchers). Leigh Syndrome may result if the percentage of mutation is high enough.

Links: https://rarediseases.info.nih.gov/diseases/262/neuropathy-ataxia-retinitis-pigmentosa-syndrome

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Mission of UMDF

To promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.

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