Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene

Parkinsonism and Related Disorders

Volumn 14, Issue 8, 2008, Pages 652-654

  Remes, A M ^a,b   Hinttala, R ^a,b   Karppa M ^a   Soini, H ^a,b   Takalo, R ^b   Uusimaa, J ^a,b   Majamaa, K ^a,b,c  

^a UNIVERSITY OF OULU   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF TURKU   (Finland)

Author keywords

Dystonia; Genetics; Mitochondria; Parkinson's disease

Indexed keywords

LEVODOPA; METHYL 3 BETA (4 IODOPHENYL)TROPANE 2 CARBOXYLATE I 123; MITOCHONDRIAL DNA; RADIOPHARMACEUTICAL AGENT; UNCLASSIFIED DRUG;

AGED; ANAMNESIS; ARTICLE; ATAXIA; BRADYKINESIA; BRAIN CORTEX ATROPHY; BRAIN TOMOGRAPHY; CASE REPORT; CEREBELLUM ATROPHY; COMPUTER ASSISTED TOMOGRAPHY; DEATH; DISEASE COURSE; ELECTROPHYSIOLOGY; EPILEPSY; EXON; FAMILY HISTORY; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; LABORATORY TEST; MALE; MEMORY DISORDER; OPHTHALMOPLEGIA; PARKINSONISM; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PNEUMONIA; POLYMERASE GAMMA GENE; PRIORITY JOURNAL; RIGIDITY; SIBLING; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

AGED; COCAINE; DNA-DIRECTED DNA POLYMERASE; HUMANS; MALE; MUTATION; PARKINSONIAN DISORDERS; RADIOPHARMACEUTICALS; SERINE; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; TRYPTOPHAN;

EID: 55749085460     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2008.01.009     Document Type: Article

References (10)

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