Understanding mitochondrial myopathies: a review [PDF]
PeerJ, 2018 Mitochondria are small, energy-producing structures vital to the energy needs of the body. Genetic mutations cause mitochondria to fail to produce the energy needed by cells and organs which can cause severe disease and death. These genetic mutations are
Abhimanyu S. Ahuja
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A clinical approach to diagnosis and management of mitochondrial myopathies. [PDF]
Neurotherapeutics, 2023 This paper provides an overview of the different types of mitochondrial myopathies (MM), associated phenotypes, genotypes as well as a practical clinical approach towards disease diagnosis, surveillance, and management. nDNA-related MM are more common in
Chin HL, Lai PS, Tay SKH.
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Remarks on Mitochondrial Myopathies. [PDF]
Int J Mol Sci, 2022 Mitochondrial myopathies represent a heterogeneous group of diseases caused mainly by genetic mutations to proteins that are related to mitochondrial oxidative metabolism.
Bottoni P, Gionta G, Scatena R.
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Molecular Genetics Overview of Primary Mitochondrial Myopathies. [PDF]
J Clin Med, 2022 Mitochondrial disorders are the most common inherited conditions, characterized by defects in oxidative phosphorylation and caused by mutations in nuclear or mitochondrial genes.
Arena IG +4 more
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Advances in primary mitochondrial myopathies. [PDF]
Curr Opin Neurol, 2019 PURPOSE OF REVIEW Although mitochondrial diseases impose a significant functional limitation in the lives of patients, treatment of these conditions has been limited to dietary supplements, exercise, and physical therapy.
de Barcelos IP, Emmanuele V, Hirano M.
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Diagnosis and Treatment of Mitochondrial Myopathies. [PDF]
Neurotherapeutics, 2018 Mitochondrial myopathies are progressive muscle conditions caused primarily by the impairment of oxidative phosphorylation (OXPHOS) in the mitochondria. This causes a deficit in energy production in the form of adenosine triphosphate (ATP), particularly ...
Ahmed ST +4 more
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Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes. [PDF]
Brain CommunMitochondrial myopathies are frequently recognized in childhood as part of a broader multisystem disorder and often overlooked in adulthood. Herein, we describe the phenotypic and genotypic spectrum and long-term outcomes of mitochondrial myopathies ...
Beecher G +3 more
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Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies [PDF]
Molecular Genetics and Metabolism ReportsMitochondrial myopathies are progressive muscle disorders caused by impaired mitochondrial oxidative phosphorylation, leading to reduced adenosine triphosphate production. Skeletal muscles have a high energy demand and are often the first to be affected.
Sylvia Rose +9 more
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Noninvasive Assessments of Mitochondrial Capacity in People with Mitochondrial Myopathies [PDF]
MusclesPeople affected by mitochondrial myopathies (MITOs) are thought to have impaired skeletal muscle oxygenation. The aims of this study were to measure skeletal muscle mitochondrial capacity in MITO participants and able-bodied (AB) participants and ...
Kevin K. McCully +2 more
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Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies [PDF]
BMC Genomics, 2017 BACKGROUND: Mutations in the gene encoding thymidine kinase 2 (TK2) result in the myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial encephalomyopathy presenting in children. In order to unveil some of the mechanisms involved
Artuch Iriberri, Rafael +24 more
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