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Gene behind long-recognized mitochondrial disease has highly varied effects

CHOP researchers find more than 30 variations in the MT-ATP6 gene with broadly variable clinical symptoms and biochemical features CHILDREN’S HOSPITAL OF PHILADELPHIA Philadelphia, March 12, 2019–For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms. However,...

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