Phenotypic Spectrum And Age Distribution of SLC25A4 Mutations
10.15520/jmbas.v6i7.125
Resumen
In a recent article, Thompson et al. reported about seven patients carrying the heterozygous mutations c.239G>A (4 patients) and c.703C>G (3 patients) in the SLC25A4 gene, clinically manifesting with severe mitochondrial DNA depletion syndrome1. All patients were born with respiratory insufficiency requiring artificial ventilation since birth1. We have the following comments and concerns.
How to Cite
Josef Finsterer, MD, PhD, Sinda Zarrouk-Mahjoub, PhD (2018). Phenotypic Spectrum And Age Distribution of SLC25A4 Mutations. Journal of Medical Biomedical and Applied Sciences , Vol. 6 Núm. 7 (2018) , 83-85 . https://doi.org/10.15520/jmbas.v6i7.125