Published on in CHOP News
Variants of the FBXL4 gene cause a severe form of the disorder with many complications and no approved treatment options.
Published on in CHOP News
New study shows how nicotimamide riboside, part of the vitamin B3 family, could mitigate myopathy caused by a genetic variant.
Published on in CHOP News
While the benefits of exercise may outweigh the risks, genetic status should be considered when recommending it as therapy.
Published on in CHOP News
Breaking Through with Madeline Bell’s “Women Leading the Way” series highlights stories about some of CHOP’s amazing women scientists, and the remarkable breakthroughs they’re making.
Published on in CHOP News
Study makes the case for Leigh syndrome to be considered a potential diagnosis for infants and children with early developmental delays.
Published on in CHOP News
New test analyzes mitochondrial DNA to find and quantify certain variations and deletions, providing a useful diagnostic tool that helps guide treatment.
Published on in Children's Doctor
Patients with mitochondrial disease often undergo a diagnostic odyssey and require multiple specialists to treat their multisystemic disease.
Published on in CHOP News
The Mitochondria and Cancer Connections (MC²) Research Program will study how cancer cells find the energy to grow and ways to prevent their return.
Published on in CHOP News
Outcome measurements revealed information about muscle weakness and differences between pediatric and adult patients.
Published on in Children's View
Researchers at CHOP discovered the genetic cause of two brothers’ early deaths. Now, their family seeks to further propel mitochondrial disease research with a $2 million gift.