A novel mitochondrial tRNAIle point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia

Journal of the Neurological Sciences

Volumn 300, Issue 1-2, 2011, Pages 187-190

  Souilem, Sihem ^a   Chebel, Saber ^b   Mancuso, Michelangelo ^c   Petrozzi, Lucia ^c   Siciliano, Gabriele ^c   Frihayed, Mahbouba ^b   Hentati, Faycal ^a   Amouri, Rim ^a  

^a Institut National de Neurologie Tunisia   (Tunisia)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c UNIVERSITY OF PISA   (Italy)

Author keywords

HyperCKemia; Mitochondrial diseases; MtDNA; PEO; TRNA mutation

Indexed keywords

CREATINE KINASE; ISOLEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CREATINE KINASE BLOOD LEVEL; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; NEUROPATHOLOGY; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN;

CREATINE KINASE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; POINT MUTATION; RNA; RNA, TRANSFER, ILE;

EID: 78650492862     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.08.065     Document Type: Article

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