ArticleOrphanet journal of rare diseases2016
Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease.BMC medicine · 2026Pooled it
- Comparative analysis of muscle pathologies and metabolic signaling in mouse models of mitochondrial dysfunction.Scientific reports · 2026Article
- Mitochondrial Impairment in Unloaded Postural Muscle: Mechanisms Driving Loss of Muscle Function and Mass.Antioxidants (Basel, Switzerland) · 2026Review
- Effects of exercise training on skeletal muscle function in patients with mitochondrial myopathy: a systematic review.Frontiers in sports and active living · 2026Review
- Mitochondrial proteostasis regulated by CRL5Communications biology · 2025Article
- Interactions of mitochondrial and skeletal muscle biology in mitochondrial myopathy.The Biochemical journal · 2023Review
- Reversible cardiac function and left ventricular hypertrophy in a Chinese man with mitochondrial myopathy: a case report.BMC cardiovascular disorders · 2023Article
- Article
- Mitochondrial Dysfunction as an Underlying Cause of Skeletal Muscle Disorders.International journal of molecular sciences · 2022Review
- Development of a Mitochondrial Myopathy-Composite Assessment Tool.JCSM clinical reports · 2021Article
- Mitochondrial respiration of complex II is not lower than that of complex I in mouse skeletal muscle.Biochemistry and biophysics reports · 2020Article
- Altered mitochondrial oxidative phosphorylation capacity in horses suffering from polysaccharide storage myopathy.Journal of bioenergetics and biomembranes · 2018Article
- Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.Annals of neurology · 2018Article
- Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients.Orphanet journal of rare diseases · 2017Article
- The Role of Exercise and TFAM in Preventing Skeletal Muscle Atrophy.Journal of cellular physiology · 2017Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches remain elusive. Therefore, the aim of the present study was to investigate disease-related impairments in skeletal muscle properties in patients with mitochondrial myopathy. Accordingly, skeletal muscle biopsies were obtained from six patients with moleculargenetically diagnosed mitochondrial myopathy (one male and five females, 53 ± 9 years) and eight age- and gender-matched healthy controls (two males and six females, 58 ± 14 years) to determine mitochondrial respiratory capacity of complex I-V, mitochondrial volume density and fiber type distribution.
resultsMitochondrial volume density (4.0 ± 0.5 vs. 5.1 ± 0.8 %) as well as respiratory capacity of complex I-V were lower (P < 0.05) in mitochondrial myopathy and associated with a higher (P < 0.001) proportion of type II fibers (65.2 ± 3.6 vs. 44.3 ± 5.9 %). Additionally, mitochondrial volume density and maximal oxidative phosphorylation capacity correlated positively (P < 0.05) to peak oxygen uptake.
conclusionMitochondrial myopathy leads to impaired mitochondrial quantity and quality and a shift towards a more glycolytic skeletal muscle phenotype.
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