The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?

Pathogenic variants in the MT-ATP6 are a well-known cause for maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes. Here, we present a 31- year old female with insulin-dependent diabetes mellitus, recurrent lactic acidosis and ketoacidosis recurrent infect...

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Detalles Bibliográficos
Autores principales: Lehmann Urban, Diana, Motlagh Scholle, Leila, Wagner, Matias, Ludolph, Albert C., Rosenbohm, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348873/
https://www.ncbi.nlm.nih.gov/pubmed/32527054
http://dx.doi.org/10.3390/diseases8020019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348873/
https://www.ncbi.nlm.nih.gov/pubmed/32527054
http://dx.doi.org/10.3390/diseases8020019

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