A novel mutation (8342G → A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus

Neuromuscular Disorders

Volumn 9, Issue 2, 1999, Pages 66-71

  Tiranti, Valeria ^a   Carrara, Franco ^a   Confalonieri, Paolo ^a   Mora, Marina ^a   Maffei, Raffaele M ^a   Lamantea, Eleonora ^a   Zeviani, Massimo ^a  

^a IRCCS   (Italy)

Author keywords

Cytochrome c oxidase; Mitochondrial tRNA(Lys); Ophthalmoplegia

Indexed keywords

CYTOCHROME C OXIDASE; LYSINE TRANSFER RNA; MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; EYE MOVEMENT DISORDER; FATIGUE; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; MUSCLE MITOCHONDRION; MUSCLE WEAKNESS; MYOCLONUS; OPHTHALMOPLEGIA; POINT MUTATION; PRIORITY JOURNAL; PTOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; TREMOR;

ADENINE; ADULT; AUTOANALYSIS; BASE SEQUENCE; EPILEPSIES, MYOCLONIC; FEMALE; GUANINE; HUMANS; MOLECULAR SEQUENCE DATA; NUCLEIC ACID CONFORMATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE; POINT MUTATION; RNA; RNA, TRANSFER, LYS;

EID: 0032924716     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00103-5     Document Type: Article

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