Articles

Phenotypic Spectrum And Age Distribution of SLC25A4 Mutations

  • Josef Finsterer, MD, PhD
    Krankenanstalt Rudolfstiftung, Vienna, Austria
  • Sinda Zarrouk-Mahjoub, PhD
    University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia
pdf (inglês)
Published 2018-07-06 Issue v. 6 n. 7 (2018) Pages 83-85 Section Articles
DOI 10.15520/jmbas.v6i7.125
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Resumo

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.

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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 , v. 6 n. 7 (2018) , 83-85 . https://doi.org/10.15520/jmbas.v6i7.125

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