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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

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.