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Definition

An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria.

Acronym

MTDPS12B

Synonyms

Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, autosomal recessive
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

Keywords

Cardiomyopathy
Primary mitochondrial disease