Fatal infantile cardioencephalomyopathy

Definition:

Fatal infantile cardioencephalomyopathy (CEMCOX) is a disorder of the mitochondrial respiratory chain characterized by neonatal progressive muscular hypotonia and cardiomyopathy because of severe cytochrome c oxidase deficiency. Mutations in the SCO2 and COX15 gene causing cytochrome c oxidase deficiency have been reported in patients with fatal infantile cardioencephalomyopathy.

References:

[1]. Fabian Baertling, et al. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. Hum Mutat. 2015 Jan;36(1):34-8. [Content Brief]

[2]. Kairit Joost, et al. A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. Pediatr Neurol. 2010 Mar;42(3):227-30. [Content Brief]

[3]. M Knuf, et al. Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. Acta Paediatr. 2007 Jan;96(1):130-2. [Content Brief]

[4]. Majid Alfadhel, et al. Infantile cardioencephalopathy due to a COX15 gene defect: report and review. Am J Med Genet A. 2011 Apr;155A(4):840-4. [Content Brief]

[5]. Merei Huigsloot, et al. A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. Am J Hum Genet. 2011 Apr 8;88(4):488-93. [Content Brief]

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