Re-diagnoses mito patient of 20 yrs with a different genetic disorder.

admin  ∼  September 7, 2012  ∼  Mitochondrial disease Muscle biopsy Diagnose Re-diagnosed

Dr Fran Kendall's medical practice's VMP Latest News webpage

Today, I spoke with a mother whose son was given a mitochondrial diagnosis almost 20 years ago. Although he had issues, he was stable, leading me to complete chromosome microarray studies. The testing noted a very specific duplication associated with a specific genetic disorder. He did not have mitochondrial disease and now his mother, who was concerned for years that he was going to one day get worse, can take a deep breath.