ArticleExperimental and therapeutic medicine2023
Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302A>G mutation in the MT‑TL1 gene: A case report.
Article in Experimental and therapeutic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- AMPK as a Therapeutic Target: Advancing Epilepsy Management Through Metabolic Modulation.Molecular neurobiology · 2025Review
- Endocrine Challenges in Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.Cureus · 2023Article
- Mitochondria and Brain Disease: A Comprehensive Review of Pathological Mechanisms and Therapeutic Opportunities.Biomedicines · 2023Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 37-year-old woman presented with proximal limb weakness, an unstable gait, tiredness and paroxysmal jitters. Neurological examination showed decreased deep tendon reflexes and positive signs indicating damage to the cerebellum. The patient's children reported no symptoms but were found to have the mitochondrial 3302A>G mutation in the mitochondrially encoded tRNA-Leu (UUA/G) 1 gene. The patient presented with increased blood lactic acid and lactic acid dehydrogenase levels, myopathy-related limb muscle electromyographic activities, ragged red fibers (RRFs), cytochrome oxidase-negative muscle fibers and mitochondrial 3302A>G mutation. Inverted lactic acid peaks in the basal ganglia, an atrophied cerebellum and multiple electroencephalographic spike waves were also observed. Therefore, myoclonic epilepsy with RRFs syndrome with the 3302A>G mutation was considered.
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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.