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Article

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.

Journal of clinical neuromuscular disease - 1 Mar 2023

Finsterer Josef

Abstract excerpt

OBJECTIVES: To provide an overview about the phenotype, genotype, treatment, and outcome of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome. METHODS: Systematic review by application of appropriate search terms. RESULTS: NARP syndrome is a syndromic mitochondrial disorder due to pathogenic variants in MT-ATP6. The canonical phenotypic features of NARP syndrome include proximal muscle weakness, axonal...

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Identifiers

PMID: 36809201
DOI: 10.1097/CND.0000000000000422

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