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

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

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

Autor(en):

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

Erschienen in:

Movement Disorders Clinical Practice (2022), Bd. 9, H. 2, S. 218-228

Verlagsangabe:

Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/mdc3.13398

ISSN:

2330-1619