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Article

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.

Brain : a journal of neurology - 1 Aug 2013

Tzoulis Charalampos, Tran Gia Tuong, Schwarzlmüller Thomas, Specht Karsten, Haugarvoll Kristoffer, Balafkan Novin, Lilleng Peer K, Miletic Hrvoje, Biermann Martin, Bindoff Laurence A

Abstract excerpt

The role of mitochondria in the pathogenesis of neurodegeneration is an area of intense study. It is known that defects in proteins involved in mitochondrial quality control can cause Parkinson's disease, and there is increasing evidence linking mitochondrial dysfunction, and particularly mitochondrial DNA abnormalities, to neuronal loss in the substantia nigra. Mutations in the catalytic subunit of polymerase...

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PMID: 23625061
DOI: 10.1093/brain/awt103

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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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