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Article

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.

Neurology - 1 Jul 1997

Santorelli F M, Tanji K, Shanske S, DiMauro S

Abstract excerpt

To obtain a better molecular definition of patients with syndromic retinitis pigmentosa, we screened for mitochondrial DNA (mtDNA) alterations of the two ATPase genes and 22 tRNA-coding sequences in 10 patients whose features resembled NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. In two patients, one of whom showed features mimicking Kearns-Sayre syndrome, we identified a heteroplasmic T8993G...

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Source

Identifiers

PMID: 9222207
DOI: 10.1212/wnl.49.1.270

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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