GTR Home > Conditions/Phenotypes > Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency

Summary

Cardioencephalomyopathy due to cytochrome c oxidase deficiency is an autosomal recessive mitochondrial disorder characterized by onset of cardiomyopathy either in utero or in the first days of life. Most patients also show neurologic abnormalities, such as abnormal breathing pattern, nystagmus, and gyral abnormalities, consistent with encephalopathy. The disorder is usually fatal in early infancy (summary by Papadopoulou et al., 1999). Genetic Heterogeneity of Fatal Infantile Cardioencephalomyopathy Due to Cytochrome c Oxidase Deficiency See also CEMCOX2 (615119), caused by mutation in the COX15 gene (603646) on chromosome 10q24; CEMCOX3 (616500), caused by mutation in the COA5 gene (613920) on chromosome 2q11; and CEMCOX4 (616501), caused by mutation in the COA6 gene (614772) on chromosome 1q42. For a phenotypic description and a discussion of genetic heterogeneity of cytochrome c oxidase deficiency, see 220110. [from OMIM]

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26 tests are in the database for this condition.

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