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Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and progressive external ophthalmoplegia (PEO) are established phenotypes of mitochondrial disorders. They are maternally-inherited, multisystem disorder that is characterized by variable clinical, biochemical, and imagi...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9414032/ https://www.ncbi.nlm.nih.gov/pubmed/36034288 http://dx.doi.org/10.3389/fneur.2022.927823 |