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...

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Detalles Bibliográficos
Autores principales: Kasetty, Megan, Altman, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
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

Internet

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

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