A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)

Neuromuscular Disorders

Volumn 20, Issue 3, 2010, Pages 204-206

  Berardo, Andres ^a   Çoku, Jorida ^a   Kurt, Bulent ^a   DiMauro, Salvatore ^a   Hirano, Michio ^a  

^a NewYork Presbyterian Hospital   (United States)

Author keywords

Chronic progressive external ophthalmoplegia (CPEO); Mitochondrial DNA (mtDNA); Point mutation; TRNAIle

Indexed keywords

ADENOSINE; CARNITINE; CYTOCHROME C OXIDASE; GUANOSINE; ISOLEUCINE TRANSFER RNA; LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA; UBIDECARENONE;

ADULT; ARTICLE; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CONTROLLED STUDY; DIABETES MELLITUS; DIPLOPIA; FEMALE; GAZE PARALYSIS; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIPOMA; MACROGLOSSIA; MUSCLE BIOPSY; PRIORITY JOURNAL; PTOSIS; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SKELETAL MUSCLE;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; RNA, TRANSFER, ILE;

EID: 77950517380     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.01.006     Document Type: Article

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