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Definition

An autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies.

Acronym

MTDPS12A

Synonyms

Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, autosomal dominant
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) autosomal dominant

Keywords

Cardiomyopathy
Primary mitochondrial disease