Autosomal dominant mutations in POLG and C10orf2: Association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients

Journal of Neurology

Volumn 260, Issue 7, 2013, Pages 1931-1933

  Brandon, Barton R ^a   Diederich, Nico J ^b   Soni, Madhu ^a   Witte, Katrin ^c   Weinhold, Manja ^c   Krause, Micaela ^c   Jackson, Sandra ^c  

^a RUSH UNIVERSITY MEDICAL CENTER   (United States)

^b CENTRE HOSPITALIER DE LUXEMBOURG   (Luxembourg)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA; CLONAZEPAM; CYTOCHROME C OXIDASE;

ADULT; AGED; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; BALANCE IMPAIRMENT; BRADYKINESIA; BRAIN ATROPHY; CARDIOMYOPATHY; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CONGENITAL CATARACT; DEPRESSION; DISEASE DURATION; DYSARTHRIA; DYSPHAGIA; EARLY MENOPAUSE; ENZYME ACTIVE SITE; FACIAL NERVE PARALYSIS; FAMILY HISTORY; FATIGUE; FUNCTIONAL NEUROIMAGING; GENE MUTATION; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; LETTER; LOW DRUG DOSE; MALE; MEDICAL HISTORY; MIGRAINE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA REPLICATION; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE RIGIDITY; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; POLYNEUROPATHY; PRIORITY JOURNAL; PTOSIS; RETINA MACULA DEGENERATION; SOUTHERN BLOTTING; THYROID DISEASE; TREMOR; UNIFIED PARKINSON DISEASE RATING SCALE; VISUAL IMPAIRMENT; WHITE MATTER LESION;

AGED; DNA HELICASES; DNA-DIRECTED DNA POLYMERASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL PROTEINS; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PARKINSONIAN DISORDERS;

EID: 84880296634     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-6975-2     Document Type: Letter

References (15)

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