Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

Filippo M. Santorelli, Kurenai Tanji, Sara Shanske, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review


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 mutation (average 80%) in the mitochondrial ATPase 6 gene. There was no mutated mtDNA in muscle and leukocytes from the mother of one patient or in leukocytes from his brother, suggesting a rapid segregation of the mutated nucleotide. MtDNA analysis should be considered in the differential diagnosis of patients with syndromic retinitis pigmentosa.

Original languageEnglish
Pages (from-to)270-273
Number of pages4
Issue number1
Publication statusPublished - Jul 1997

ASJC Scopus subject areas

  • Neuroscience(all)

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