A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers

Neurology

Volumn 52, Issue 2, 1999, Pages 377-382

  Arenas, J ^a   Campos, Y ^a   Bornstein, B ^b   Ribacoba, R ^c   Martin M A ^a   Rubio, J C ^a   Santorelli, F M ^d   Zeviani, M ^e   DiMauro, S ^d   Garesse, Rafael ^f  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL SEVERO OCHOA   (Spain)

^c HOSPITAL ÁLVAREZ BUYLLA   (Spain)

^d Columbia Univ Coll Phys/Surgs ^*  (United States)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; LYSINE TRANSFER RNA; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RESTRICTION ENDONUCLEASE;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENOME; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL RESPIRATION; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; RELATIVE; RESPIRATORY CHAIN; SLOW MUSCLE FIBER;

EID: 0033556362     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.2.377     Document Type: Article

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