ArticleJournal of neurology2015
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.
Article in Journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 51 citations in OpenAlex.
- Shifting the Balance: Mitochondrial Heteroplasmy as a Driver of Cardiac Disease.Circulation research · 2026Review
- Metabo-epigenetic circuits of heart failure: chromatin-modifying enzymes as determinants of metabolic plasticity.EMBO molecular medicine · 2026Review
- Role of cardiovascular magnetic resonance in diagnosis and management of muscular dystrophies.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2026Review
- Cardiac magnetic resonance findings in mitochondrial disease: a guide for clinicians.European heart journal. Imaging methods and practice · 2025Review
- Review
- Myoclonic Epilepsy With Ragged Red Fiber Cardiomyopathy: A Case Report and Brief Review of Literature.Cureus · 2024Article
- Mitochondrial disease and epilepsy in children.Frontiers in neurology · 2024Review
- Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?International journal of molecular sciences · 2023Review
- A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.EMBO molecular medicine · 2023Article
- Cardiac Involvement in Mitochondrial Disorders.Current heart failure reports · 2023Review
- Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations.Journal of clinical medicine · 2022Review
- Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.Molecules (Basel, Switzerland) · 2022Review
- Cardiac Involvement in Movement Disorders.Movement disorders clinical practice · 2021Review
- Sleep Disorders in Mitochondrial Diseases.Current neurology and neuroscience reports · 2021Review
- The molecular pathology of pathogenic mitochondrial tRNA variants.FEBS letters · 2021Review
- "Myo-neuropathy" is commonly associated with mitochondrial tRNAJournal of neurology · 2020Article
- Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.Frontiers in neurology · 2020Article
- Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy.Neurology. Genetics · 2019Article
- Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?Chinese medical journal · 2019Article
- Cardiovascular Manifestations of Mitochondrial Disease.Biology · 2019Review
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Authors and funding
11 authors at 3 institutions in 3 countries.
Funding
Abstract
The objective of the study was to better characterize the clinical phenotype associated with the A8344G "MERRF" mutation of mitochondrial DNA. Fifteen mutated patients were extensively investigated. The frequency of main clinical features was: exercise intolerance and/or muscle weakness 67 %, respiratory involvement 67 %, lactic acidosis 67 %, cardiac abnormalities 53 %, peripheral neuropathy 47 %, myoclonus 40 %, epilepsy 40 %, ataxia 13 %. A restrictive respiratory insufficiency requiring ventilatory support was observed in about half of our patients. One patient developed a severe and rapidly progressive cardiomyopathy requiring cardioverter-defibrillator implantation. Five patients died of overwhelming, intractable lactic acidosis. Serial muscle MRIs identified a consistent pattern of muscle involvement and progression. Cardiac MRI showed non-ischemic late gadolinium enhancement in the left ventricle inferolateral part as early sign of myocardial involvement. Brain spectroscopy demonstrated increased peak of choline and reduction of N-acetylaspartate. Lactate was never detected in brain areas, while it could be documented in ventricles. We confirm that muscle involvement is the most frequent clinical feature associated with A8443G mutation. In contrast with previous reports, however, about half of our patients did not develop signs of CNS involvement even in later stages of the disease. The difference may be related to the infrequent investigation of A8344G mutation in 'pure' mitochondrial myo-cardiomyopathy, representing a bias and a possible cause of syndrome's underestimation. Our study highlights the importance of lactic acidosis and respiratory muscle insufficiency as critical prognostic factors. Muscle and cardiac MRI and brain spectroscopy may be useful tools in diagnosis and follow-up of MERRF.
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