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Phenotypic heterogeneity of the mitochondrial DNA A8344G variant presenting with dorsal midbrain syndrome
PURPOSE: To describe a neuro-ophthalmic presentation of a phenotypically heterogeneous mitochondrial DNA variant. OBSERVATIONS: A 10-year-old female with gross motor developmental delay, absence seizures and ataxia subacutely developed poor near acuity and asthenopia. She was found to have accommoda...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10585209/ https://www.ncbi.nlm.nih.gov/pubmed/37869268 http://dx.doi.org/10.1016/j.ajoc.2023.101938 |