Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

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Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

Author: Magrinelli, Francesca; Cali, Elisa; Braga, Vinicius Lopes; Yis, Uluc; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flavio Moura; Povoas Barsottini, Orlando Graziani; Taylor, Robert W.; Ostergaard, Elsebet; Tamim, Abdullah; Schaeferhoff, Karin; Ferraz Sallum, Juliana Maria; Zaki, Maha S.; Kok, Fernando; Bhatia, Kailash P.; Wissinger, Bernd; Sergeant, Kate; Haack, Tobias B.; Horvath, Rita; Hiz, Semra; Alkuraya, Fowzan S.; Houlden, Henry; Pedroso, Jose Luiz; Maroofian, Reza
Tübinger Autor(en):
Kernstock, Christoph
Wissinger, Bernd
Schäferhoff, Karin
Haack, Tobias
Published in: Movement Disorders Clinical Practice (2022), Bd. 9, H. 2, S. 218-228
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/mdc3.13398
ISSN: 2330-1619
DDC Classifikation: 610 - Medicine and health
Dokumentart: Article
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