Advertisement

PTCD3 mutations cause Leigh-like rather than Leigh syndrome

  • Josef FinstererEmail author
  • Carla A. Scorza
  • Fulvio A. Scorza
Letter to Editor
  • 14 Downloads

Notes

References

  1. 1.
    Borna NN, Kishita Y, Kohda M, Lim SC, Shimura M, Wu Y, Mogushi K, Yatsuka Y, Harashima H, Hisatomi Y, Fushimi T, Ichimoto K, Murayama K, Ohtake A, Okazaki Y (2019) Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. Neurogenetics.  https://doi.org/10.1007/s10048-018-0561-9
  2. 2.
    Finsterer J (2008) Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 39:223–235CrossRefGoogle Scholar
  3. 3.
    Finsterer J, Zarrouk Mahjoub S (2012) Epilepsy in mitochondrial disorders. Seizure 21:316–321CrossRefGoogle Scholar
  4. 4.
    Doummar D, Mignot C, Apartis E, Villard L, Rodriguez D, Chantot-Bastauraud S, Burglen L (2015) A novel homozygous TBC1D24 mutation causing multifocal myoclonus with cerebellar involvement. Mov Disord 30:1431–1432CrossRefGoogle Scholar
  5. 5.
    Wilnai Y, Seaver LH, Enns GM (2012) Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures? Am J Med Genet A 158A:2353–2357CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Krankenanstalt Rudolfstiftung, Messerli InstituteVeterinary University of ViennaViennaAustria
  2. 2.Disciplina de NeurociênciaEscola Paulista de Medicina/Universidade Federal de São Paulo/. (EPM/UNIFESP)São PauloBrazil

Personalised recommendations