Cytochrome C Oxidase Deficiency
What's New
Last Posted: Jan 01, 2011
- Cytochrome c oxidase deficiency
From NCATS Genetic and Rare Diseases Information Center - High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
Piekutowska-Abramczuk Dorota, et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009 3 (2) 146-53 - Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
Tay Stacey K H, et al. Archives of neurology 2004 12 (12) 1935-7
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 07, 2023
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