One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
Karien Esterhuizen, Jeremie Zander Lindeque, Shayne Mason, Francois H. van der Westhuizen, Richard J. Rodenburg, Paul de Laat, Jan Smeıtınk, Mirian C. H. Janssen, Roan Louw
Topics & Concepts
Mitochondrial myopathyMitochondrial encephalomyopathyMELAS syndromeLactic acidosisMitochondrial diseaseMyopathyMitochondrial DNABiologyMutationPoint mutationPhenotypeGeneticsMetabolomeInternal medicineBioinformaticsMedicineMetabolomicsEndocrinologyGeneMitochondrial Function and PathologyATP Synthase and ATPases ResearchAdipose Tissue and Metabolism