Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA
G Hedermann, JR Dahlqvist, N Løkken… - Neuromuscular …, 2018 - Elsevier
Muscle dysfunction in mitochondrial myopathy is predominantly caused by insufficient
generation of energy. We hypothesise that structural changes in muscles could also
contribute to their pathophysiology. The aims of this study were to determine fat fractions and
strength in selected muscles in patients with chronic progressive external ophthalmoplegia
(CPEO), and compare progression of muscle fat fraction with age in individuals with CPEO
vs. healthy controls and patients with the m. 3243A> G mutation of mitochondrial DNA …
generation of energy. We hypothesise that structural changes in muscles could also
contribute to their pathophysiology. The aims of this study were to determine fat fractions and
strength in selected muscles in patients with chronic progressive external ophthalmoplegia
(CPEO), and compare progression of muscle fat fraction with age in individuals with CPEO
vs. healthy controls and patients with the m. 3243A> G mutation of mitochondrial DNA …
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