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Mitochondrial complex IV deficiency with recurrent myoglobinuria

MedGen UID:
866063
Concept ID:
C4017626
Finding
Synonym: MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA
 
OMIM®: 516050

Recent clinical studies

Etiology

Berardo A, DiMauro S, Hirano M
Curr Neurol Neurosci Rep 2010 Mar;10(2):118-26. doi: 10.1007/s11910-010-0096-4. PMID: 20425236Free PMC Article
Cornelio F, Di Donato S
J Neurol 1985;232(6):329-40. doi: 10.1007/BF00313831. PMID: 2934518

Diagnosis

Vissing CR, Duno M, Olesen JH, Rafiq J, Risom L, Christensen E, Wibrand F, Vissing J
Neurology 2013 May 14;80(20):1908-10. Epub 2013 Apr 24 doi: 10.1212/WNL.0b013e3182929fb2. PMID: 23616164
Berardo A, DiMauro S, Hirano M
Curr Neurol Neurosci Rep 2010 Mar;10(2):118-26. doi: 10.1007/s11910-010-0096-4. PMID: 20425236Free PMC Article
de Lonlay-Debeney P, Edery P, Cormier-Daire V, Parfait B, Chrétien D, Rötig A, Romero N, Saudubray JM, Munnich A, Rustin P
Neuropediatrics 1999 Feb;30(1):42-4. doi: 10.1055/s-2007-973456. PMID: 10222461
Saunier P, Chretien D, Wood C, Rötig A, Bonnefont JP, Saudubray JM, Rabier D, Munnich A, Rustin P
Neuromuscul Disord 1995 Jul;5(4):285-9. doi: 10.1016/0960-8966(94)00071-g. PMID: 7580240
Cornelio F, Di Donato S
J Neurol 1985;232(6):329-40. doi: 10.1007/BF00313831. PMID: 2934518

Prognosis

Sobreira C, Hirano M, Shanske S, Keller RK, Haller RG, Davidson E, Santorelli FM, Miranda AF, Bonilla E, Mojon DS, Barreira AA, King MP, DiMauro S
Neurology 1997 May;48(5):1238-43. doi: 10.1212/wnl.48.5.1238. PMID: 9153450
Saunier P, Chretien D, Wood C, Rötig A, Bonnefont JP, Saudubray JM, Rabier D, Munnich A, Rustin P
Neuromuscul Disord 1995 Jul;5(4):285-9. doi: 10.1016/0960-8966(94)00071-g. PMID: 7580240
Cornelio F, Di Donato S
J Neurol 1985;232(6):329-40. doi: 10.1007/BF00313831. PMID: 2934518

Supplemental Content

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