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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2018
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| Materias: | |
| 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 |