Researchers in Melbourne, Australia have found that most patients with mitochondrial disease can be diagnosed via genomic sequencing.
The study enrolled 140 children and adults with symptoms including muscle weakness, intellectual disability, developmental delay, seizures and hearing impairment. The researchers reported a high diagnostic yield of 55 percent, with 71 percent of diagnoses made in genes known to cause mitochondrial disease.
Read more in the Murdoch Children's Research Institute's press release.