Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA

Neurology

Volumn 55, Issue 5, 2000, Pages 644-649

  Karadimas, C L ^a   Greenstein, P ^b   Sue, C M ^a   Joseph, J T ^b   Tanji, K ^a   Haller, R G ^c   Taivassalo, T ^c   Davidson, M M ^a   Shanske, S ^a   Bonilla, E ^a   DiMauro, Salvatore ^a  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c PRESBYTERIAN HOSPITAL OF DALLAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOOXYGENASE 1; MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; GERM LAYER; HUMAN; MALE; MITOCHONDRIAL MYOPATHY; MYOGLOBINURIA; NONSENSE MUTATION; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; RECURRENT DISEASE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0033811149     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.5.644     Document Type: Article

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