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Article

Leber's hereditary optic neuropathy with dystonia in a Japanese family.

Journal of the neurological sciences - 15 Apr 2006

Watanabe Masaki, Mita Shuji, Takita Tomohiro, Goto Yu-ichi, Uchino Makoto, Imamura Shigehiro

Abstract excerpt

We investigated a Japanese family with generalized dystonia attributed to striatal degeneration, which occurred in childhood, and late-onset optic neuropathy. We determined the entire nucleotide sequence of mitochondrial DNA (mtDNA) from the proband and compared our findings with the 2001 Revised Cambridge Reference Sequence. The mtDNA of the proband showed a total of 42 nucleotide changes. We identified two...

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Source

Identifiers

PMID: 16380132
DOI: 10.1016/j.jns.2005.11.003

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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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