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Summary
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 (CEMCOX3)
616500
OMIM = Online Medalian Inheritance of Men
2q11.2
rare
autosomal recessive
mutation in the COA5 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
early death
onset, neonatal
laboratory finding
Literature
Li XY, Jiang Y,et al.A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ôàí patientZhonghua Nei Ke Za Zhi5610760-7622017