Mitochondrial transfer RNAPhe mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity

Archives of Neurology

Volumn 67, Issue 11, 2010, Pages 1399-1402

  Young, Tim M ^a   Blakely, Emma L ^b   Swalwell, Helen ^b   Carter, Janet E ^c   Kartsounis, Luke D ^a   O'Donovan, Dominic G ^a   Turnbull, Douglass M ^b   Taylor, Robert W ^b   De Silva, Rajith N ^a  

^a QUEEN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF NEWCASTLE   (Australia)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; LACTIC ACID; TRANSFER RNA;

ADULT; AKINESIA; ARTICLE; ATAXIA; AUDITORY HALLUCINATION; BRADYPHRENIA; BRAIN ATROPHY; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DEMENTIA; DISEASE COURSE; DNA EXTRACTION; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; LABORATORY TEST; LACTATE BLOOD LEVEL; LIMB WEAKNESS; MINI MENTAL STATE EXAMINATION; MITOCHONDRIAL GENOME; MUSCLE BIOPSY; NEEDLE BIOPSY; NERVE DEGENERATION; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PARANOIA; PERCEPTION DEAFNESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGRESSIVE NEURODEGENERATIVE DISORDER; PSYCHOSIS; RIGIDITY; SCORING SYSTEM; SELF NEGLECT; SEQUENCE ANALYSIS; UNIVERSITY HOSPITAL; WEIGHT REDUCTION;

ATROPHY; BRAIN; DEMENTIA; DISEASE PROGRESSION; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUSCLE RIGIDITY; MUTATION; NEURODEGENERATIVE DISEASES; NEUROPSYCHOLOGICAL TESTS; PHENYLALANINE; RNA, TRANSFER;

EID: 78149475340     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2010.283     Document Type: Article

References (7)

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