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Case report: MELAS and T3271C mitochondrial mutation in an adult woman

INTRODUCTION: Patients with mitochondrial disorders always show neurological deficits. However, the diversity of clinical manifestations, genetic heterogeneity and threshold effect caused by maternal heredity make its diagnosis very challenging. CASE PRESENTATION: A 30-year-old female presented to o...

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Detalles Bibliográficos
Autores principales: Chen, Dong-hua, Li, Wei, Jiang, Hai-shan, Yuan, Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413099/
https://www.ncbi.nlm.nih.gov/pubmed/37576015
http://dx.doi.org/10.3389/fneur.2023.1179992