Mito Re-diagnosed to Atypical Rett syndrome

admin  ∼  February 27, 2013  ∼  Mitochondrial disease Next gen sequencing Exome Muscle biopsy Diagnose Re-diagnosed

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

Another child with presumed mitochondrial disease based on a muscle biopsy was identified with Atypical Rett syndrome due to the detection of a CDKL5 mutation. We are proud of working hard to find the right answers for our families.