Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 1, 2010, Pages 90-93

  Dermaut, B ^a,b   Seneca, S ^c   Dom, L ^d   Smets, K ^e,f   Ceulemans, L ^g   Smet, J ^a   De Paepe, B ^a   Tousseyn, S ^h   Weckhuysen, S ^h   Gewillig, M ^h   Pals, P ^e   Parizel, P ^e   De Bleecker, J L ^a   Boon, P ^a   De Meirleir, L ^c   De Jonghe, P ^e,f   Van Coster, R ^a   Van Paesschen, W ^h   Santens, P ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^d Koningin Paola Kinderziekenhuis   (Belgium)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g Department of Gastroenterology   (Belgium)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; AGED; ARTICLE; BELGIUM; CLINICAL ARTICLE; CLINICAL FEATURE; CORRELATIONAL STUDY; DISEASE SEVERITY; DYSTONIA; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOKINESIA; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; LEUKOCYTE; MALE; MIGRAINE WITH AURA; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE TISSUE; MYOCLONUS EPILEPSY; NON INSULIN DEPENDENT DIABETES MELLITUS; ONSET AGE; OPTIC NERVE DISEASE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROGRESSIVE HYPOKINETIC RIGID SYNDROME; RESPIRATORY CHAIN;

EID: 73449108054     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.157354     Document Type: Article

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