Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.
Identifieur interne : 001F49 ( PubMed/Curation ); précédent : 001F48; suivant : 001F50Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.
Auteurs : Wim Vandenberghe ; Koen Van Laere ; Frederik Debruyne ; Christine Van Broeckhoven ; Gert Van GoethemSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Amino Acid Substitution, Blepharoptosis (genetics), Carbon Radioisotopes (diagnostic use), DNA Helicases (genetics), Female, Genes, Mitochondrial, Humans, Iodine Radioisotopes (diagnostic use), Male, Middle Aged, Mitochondrial Proteins, Mutation, Missense, Ophthalmoplegia, Chronic Progressive External (genetics), Ophthalmoplegia, Chronic Progressive External (radionuclide imaging), Parkinsonian Disorders (genetics), Parkinsonian Disorders (radionuclide imaging), Pedigree, Point Mutation, Positron-Emission Tomography, Putamen (radionuclide imaging), Tremor (genetics), Tropanes (diagnostic use).
- MESH :
- chemical , diagnostic use : Carbon Radioisotopes, Iodine Radioisotopes, Tropanes.
- genetics : Blepharoptosis, DNA Helicases, Ophthalmoplegia, Chronic Progressive External, Parkinsonian Disorders, Tremor.
- radionuclide imaging : Ophthalmoplegia, Chronic Progressive External, Parkinsonian Disorders, Putamen.
- Amino Acid Substitution, Female, Genes, Mitochondrial, Humans, Male, Middle Aged, Mitochondrial Proteins, Mutation, Missense, Pedigree, Point Mutation, Positron-Emission Tomography.
DOI: 10.1002/mds.22198
PubMed: 18973250
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