Articles Posted byjeff

What is PPA2? This information is brought to you in partnership with Heart of PPA2. Inorganic pyrophosphatase 2 deficiency – commonly known as...

What is PCQD? Primary Co-Enzyme Q10 Deficiency (PCQD) is a rare and progressive mitochondrial respiratory chain disorder, also known as Primary...

What are primary mitochondrial myopathies? Primary mitochondrial myopathies (PMM) are a group of genetically defined mitochondrial diseases...

What is SANDO? Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) is a very rare mitochondrial disease that is part of the...

Just Released! Click here for our new TK2d Early Symptom Reflection Tool What is TK2d? Thymidine kinase 2 deficiency (TK2d) is a rare genetic...