Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy

OBJECTIVE: To determine the disease relevance of a novel de novo dominant variant in the SLC25A4 gene, encoding the muscle mitochondrial adenosine diphosphate (ADP)/adenosine triphosphate (ATP) carrier, identified in a child presenting with a previously unreported phenotype of mild childhood-onset m...

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Detalles Bibliográficos
Autores principales: King, Martin S., Thompson, Kyle, Hopton, Sila, He, Langping, Kunji, Edmund R.S., Taylor, Robert W., Ortiz-Gonzalez, Xilma R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055355/
https://www.ncbi.nlm.nih.gov/pubmed/30046662
http://dx.doi.org/10.1212/NXG.0000000000000256

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055355/
https://www.ncbi.nlm.nih.gov/pubmed/30046662
http://dx.doi.org/10.1212/NXG.0000000000000256

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