Mitochondrial dysfunction in myotonic dystrophy type 1
LL Gramegna, MP Giannoccaro, DN Manners… - Neuromuscular …, 2018 - Elsevier
The pathophysiological mechanism linking the nucleotide expansion in the DMPK gene to
the clinical manifestations of myotonic dystrophy type 1 (DM1) is still unclear. In vitro studies
demonstrate DMPK involvement in the redox homeostasis of cells and the mitochondrial
dysfunction in DM1, but in vivo investigations of oxidative metabolism in skeletal muscle
have provided ambiguous results and have never been performed in the brain. Twenty-five
DM1 patients (14M, 39±11years) underwent brain proton MR spectroscopy (1 H-MRS), and …
the clinical manifestations of myotonic dystrophy type 1 (DM1) is still unclear. In vitro studies
demonstrate DMPK involvement in the redox homeostasis of cells and the mitochondrial
dysfunction in DM1, but in vivo investigations of oxidative metabolism in skeletal muscle
have provided ambiguous results and have never been performed in the brain. Twenty-five
DM1 patients (14M, 39±11years) underwent brain proton MR spectroscopy (1 H-MRS), and …