Clinical/scientific notes

Neurology

Volumn 80, Issue 20, 2013, Pages 1908-1910

  Vissing, Christoffer Rasmus ^a   Duno, Morten ^a   Olesen, Jess Have ^a   Rafiq, Jabin ^a   Risom, Lotte ^a   Christensen, Ernst ^a   Wibrand, Flemming ^a   Vissing, John ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; RIBOFLAVIN; CARNITINE; CYTOCHROME C OXIDASE SUBUNIT II; DRUG DERIVATIVE;

ADULT; ARTICLE; CASE REPORT; DISEASE DURATION; DISEASE SEVERITY; DRUG TREATMENT FAILURE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MYOGLOBINURIA; PRIORITY JOURNAL; TREATMENT DURATION; GENETICS; MUTATION; RECURRENT DISEASE;

ADULT; CARNITINE; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; HUMANS; MALE; MUTATION; MYOGLOBINURIA; RECURRENCE;

MLCS; MLOWN;

EID: 84879096837     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182929fb2     Document Type: Article

References (7)

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3. McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul Disord 2004;14:162-166.
4. Zhadanov SI, Atamanov VV, Zhadanov NI, Schurr TG. De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology. J Hum Genet 2006;51:161-170.
5. DiMauro S, Tanji K, Schon EA. The many clinical faces of cytochrome c oxidase deficiency. Adv Exp Med Biol 2012;748:341-357.
6. Andreu AL, Hanna MG, Reichmann H, et al. Excercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Eng J Med 1999;341:1037-1044.
7. Emmanuelle V, Sotiriou E, Shirazi M, et al. Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation. J Neurol Sci 2011;303:39-42.