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Definition

An autosomal recessive mitochondrial disorder characterized by lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Skeletal muscle biopsies show significant mtDNA depletion and abnormal mitochondria.

Acronym

MTDPS14

Synonyms

Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)

Keywords

Cardiomyopathy
Primary mitochondrial disease