Mitochondrial_myopathies

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies.

BACKGROUND

Quantitative muscle MRI is increasingly used to assess structural muscle damage in inherited myopathies, but its application in primary mitochondrial myopathies (PMM) has not been systematically evaluated in large cohorts. Because PMM are clinically and genetically heterogeneous, objective imaging biomarkers...

🗓️ 2026-09-15
📰 Publication: Journal Of Cachexia Sarcopenia And Muscle
Read MoreQuantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies.

Sucla2 Knock-Out in Skeletal Muscle Yields Mouse Model of Mitochondrial Myopathy With Muscle Type-Specific Phenotypes.

Pathogenic variants in subunits of succinyl-CoA synthetase (SCS) are associated with mitochondrial encephalomyopathy in humans. SCS catalyses the conversion of succinyl-CoA to succinate coupled with substrate-level phosphorylation of either ADP or GDP in the TCA cycle. This report presents a...

🗓️ 2024-10-31
📰 Publication: Journal Of Cachexia Sarcopenia And Muscle
Read MoreSucla2 Knock-Out in Skeletal Muscle Yields Mouse Model of Mitochondrial Myopathy With Muscle Type-Specific Phenotypes.

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