ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2024
A clinical approach to diagnosis and management of mitochondrial myopathies.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Mitochondrial Myopathy in the Oculoplastic Practice.Journal of clinical medicine · 2026Article
- Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint GeneticsOrphanet journal of rare diseases · 2026Observational
- Disease burden of untreated thymidine kinase 2 deficiency: insights from a large patient dataset.Brain communications · 2026Article
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- Progressive Weakness in Adulthood: Lipid Storage Myopathy With Suspected Sertraline-Associated Etiology.Cureus · 2025Article
- Pharmacokinetics of Bocidelpar, ASP0367, in Renal and Hepatic Impairment: Results From Two Phase 1 Studies.Clinical and translational science · 2025Article
- The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.Biomolecules · 2025Review
- NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.Frontiers in neuroscience · 2025Article
- Mitochondrial disorders: Emerging paradigms and the road ahead to personalized medicine.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 pediatric-onset disease whilst mtDNA-related MMs are more frequent in adults. Genotype-phenotype correlation in MM is challenging due to clinical and genetic heterogeneity. The multisystemic nature of many MMs adds to the diagnostic challenge. Diagnostic approaches utilizing genetic sequencing with next generation sequencing approaches such as gene panel, exome and genome sequencing are available. This aids molecular diagnosis, heteroplasmy detection in MM patients and furthers knowledge of known mitochondrial genes. Precise disease diagnosis can end the diagnostic odyssey for patients, avoid unnecessary testing, provide prognosis, facilitate anticipatory management, and enable access to available therapies or clinical trials. Adjunctive tests such as functional and exercise testing could aid surveillance of MM patients. Management requires a multi-disciplinary approach, systemic screening for comorbidities, cofactor supplementation, avoidance of substances that inhibit the respiratory chain and exercise training. This update of the current understanding on MMs provides practical perspectives on current diagnostic and management approaches for this complex group of disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.