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Article

Heterogeneous patterns of tissue injury in NARP syndrome.

Journal of neurology - 1 Mar 2011

Gelfand Jeffrey M, Duncan Jacque L, Racine Caroline A, Gillum Leslie A, Chin Cynthia T, Zhang Yuhua, Zhang Qing, Wong Lee-Jun C, Roorda Austin, Green Ari J

Abstract excerpt

Point mutations at m.8993T>C and m.8993T>G of the mtDNA ATPase 6 gene cause the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome, a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. We performed detailed neurological, neuropsychological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20953793
DOI: 10.1007/s00415-010-5775-1
PMCID: PMC3068520

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20953793-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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