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Mitochondrial depletion syndrome

From SNPedia


Mitochondrial depletion syndromes are a group of autosomal recessive disorders which cause the affected tissues to suffer from a significant drop in mitochondrial DNA. Symptoms may manifest as myopathic, hepatopathic, and/or encephalomyopathic, affecting the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with certain myopathic variants.Wikipedia

The three forms and the genes potentially harboring causative mutations are:

  • Myopathic form: TK2 gene