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[A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2015

Miyawaki Toko, Koto Shusuke, Ishihara Hiroyuki, Goto Yuichi, Nishino Ichizo, Kanda Fumio, Toda Tatsushi

Abstract excerpt

We report a patient having classical clinical feature of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) and a novel mutation, m.8729 G>A in mitochondria DNA. The patient was referred to our hospital because of progressive ataxia in her limbs and trunk. She had a history of incapability of running long distances from childhood. Neurological examination revealed cerebellar ataxia, distal...

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Identifiers

PMID: 25746071
DOI: 10.5692/clinicalneurol.55.91

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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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