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Definition

An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency.

Acronym

MC4DN13

Synonyms

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
CEMCOX4

Keywords

Primary mitochondrial disease

 
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