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Article

Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease.

Neurogenetics - 1 Mar 1998

Kösel S, Grasbon-Frodl E M, Mautsch U, Egensperger R, von Eitzen U, Frishman D, Hofmann S, Gerbitz K D, Mehraein P, Graeber M B

Abstract excerpt

Complete sequence analysis of all mitochondrial complex I genes was performed in 22 cases of neuropathologically confirmed idiopathic Parkinson disease (PD). DNA from the substantia nigra was used as a template for polymerase chain reaction-based genomic sequencing. Seven novel mutations causing the exchange of amino acids were detected in subunit genes ND1 (3992 C/ T, 4024 A/G), ND4 (11253 T/C, 12084 C/T), ND5...

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Share to Amino Acid Substitution
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sequence Alignment

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 10737123
DOI: 10.1007/s100480050029

Provenance

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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