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Article

Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1.

Parkinsonism & related disorders - 1 Sept 2013

Mukai Masako, Sugaya Keizo, Yabe Ichiro, Goto Yu-ichi, Yokochi Fusako, Miyamoto Kazuhito, Cai Huaying, Sasaki Hidenao, Matsubara Shiro

Abstract excerpt

BACKGROUND: Progressive external ophthalmoplegia (PEO) and parkinsonism can be caused by genetic mutations that affect mitochondrial DNA (mtDNA) maintenance. We characterized parkinsonism in a family with dominantly inherited PEO. METHODS: We conducted clinical, histological and genetic analyses on two affected members suffering from PEO and parkinsonism, and reviewed the cases in the literature. To clarify...

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Identifiers

PMID: 23673011
DOI: 10.1016/j.parkreldis.2013.04.011

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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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