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Metabolic Brain Disease

, Volume 33, Issue 5, pp 1389–1390 | Cite as

ISCA2 mutations manifest differentially from DARS2 mutations

  • Josef Finsterer
  • Sinda Zarrouk-Mahjoub
Commentary
  • 54 Downloads

Notes

Author’s contribution

JF: design, literature search, discussion, first draft, SZ-M: literature search, critical review.

Compliance with ethical standards

Conflicts of interest

There are no conflicts of interest.

References

  1. Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N (2018) Further delineation of the phenotypic spectrum of ISCA2 defect: a report of ten new cases. Eur J Paediatr Neurol 22:46–55CrossRefGoogle Scholar
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  5. Toldo I, Nosadini M, Boscardin C, Talenti G, Manara R, Lamantea E, Legati A, Ghezzi D, Perilongo G, Sartori S (2018) Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. Metab Brain Dis 33:805–812.  https://doi.org/10.1007/s11011-017-0181-3 CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Krankenanstalt RudolfstiftungViennaAustria
  2. 2.Pasteur Institute of TunisUniversity of Tunis El Manar and Genomics PlatformTunisTunisia

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