Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle [9]

Journal of Neurology

Volumn 254, Issue 11, 2007, Pages 1614-1615

  Smits, B W ^a   Hol, F A ^a   Van Den Heuvel, L P ^a   Drost, G ^a   Rodenburg, R J T ^a   Ter Laak, H J ^a   Van Engelen, B G M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ELECTROMYOGRAM; ELECTRON MICROSCOPY; EXTERNAL OPHTHALMOPLEGIA; GENE MUTATION; HISTORY OF MEDICINE; HUMAN; LABORATORY TEST; LETTER; MALE; NEEDLE BIOPSY; NEUROLOGIC EXAMINATION; NEUROMUSCULAR TRANSMISSION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

DNA, MITOCHONDRIAL; HUMANS; MALE; MIDDLE AGED; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; RNA, TRANSFER, ILE;

EID: 36349018837     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-007-0608-6     Document Type: Letter

References (4)

1. Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, Wallace DC (2005) MITOMAP: a human mitochondrial genome database - 2004 update. Nucleic Acids Research 33:D611-D613
2. Janssen AJM, Trijbels FJM, Sengers RCA, Wintjes LTM, Ruitenbeek W, Smeitink JAM, Morava E, Van Engelen BGM, van den Heuvel LP, Rodenburg RJT (2006) Measurement of the energygenerating capacity of human muscle mitochondria: Diagnostic procedure and application to human pathology. Clinical Chemistry 52:860-871
3. Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320:1293-1299
4. Taylor RW, Schaefer AM, McFarland R, Maddison P, Turnbull DM (2002) A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscul Disord 12:659-664