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Complex II Deficiency Long Name: Succinate dehydrogenase deficiency Symptoms: Encephalomyopathy and various manifestations, including failure...

Complex III Deficiency Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency Symptoms: Four major forms:  Fatal infantile...

Complex IV Deficiency / COX Deficiency Long Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain....

Complex V Deficiency Long Name: ATP synthase deficiency Symptoms: Slow, progressive myopathy Links:...

CPT I Deficiency Symptoms: Enlarged liver and recurrent Reye-like episodes triggered by fasting or illnesses Cause: Autosomal recessive...

CPT II Deficiency Symptoms – Myopathic: Exercise intolerance, fasting intolerance, muscle pain, muscle stiffness, and myoglobin in the urine...

What is CPEO? See similar topics: KSS, Mitochondrial Deletion Syndrome, CPEO-Plus Chronic progressive external ophthalmoplegia (CPEO) is a...

My Mito Story: Living with CPEO-Plus Hear first-hand from other families diagnosed with Chronic progressive external ophthalmoplegia “plus” As...

Creatine Deficiency Syndromes Additional names: Cerebral Creatine Deficiency Syndromes (CCDS) includes: Guanidinoaceteate Methyltransferase...