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Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302A>G mutation in the MT‑TL1 gene: A case report
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 hav...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9849847/ https://www.ncbi.nlm.nih.gov/pubmed/36684660 http://dx.doi.org/10.3892/etm.2023.11786 |