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Article

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

Archives of neurology - 1 Jun 2002

Sacconi Sabrina, Salviati Leonardo, Gooch Clifton, Bonilla Eduardo, Shanske Sara, DiMauro Salvatore

Abstract excerpt

OBJECTIVES: To confirm the pathogenicity of the G-to-A substitution at nucleotide 1606 (G1606A) mutation in the mitochondrial DNA (mtDNA) tRNA(Val) gene, and to characterize genotype-phenotype correlation. PATIENT AND METHODS: A 37-year-old man since childhood developed a complex clinical picture characterized by hearing loss, migraine, ataxia, seizures, cataracts, retinitis pigmentosa, mental deterioration, and...

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Identifiers

PMID: 12056939
DOI: 10.1001/archneur.59.6.1013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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