Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions.

Blotting, Southern Brain/metabolism,pathology DNA Mutational Analysis DNA Polymerase gamma DNA, Mitochondrial/genetics DNA-Directed DNA Polymerase/genetics Electron Transport Complex IV/metabolism Humans Immunohistochemistry Lewy Bodies/pathology Male Middle Aged Muscle, Skeletal/metabolism,pathology Mutation Myelin Sheath/pathology Parkinsonian Disorders/genetics,pathology Polymerase Chain Reaction Spinal Cord/pathology Voltage-Dependent Anion Channels/metabolism alpha-Synuclein/metabolism

DNA, Mitochondrial Voltage-Dependent Anion Channels alpha-Synuclein Electron Transport Complex IV DNA Polymerase gamma DNA-Directed DNA Polymerase POLG protein, human