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

BACKGROUND: Biallelic loss‐of‐function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. OBJECTIVES: To fully characterize, both phenotypically and genotypically, NDUFA12‐related mitoc...

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Detalles Bibliográficos
Autores principales: Magrinelli, Francesca, Cali, Elisa, Braga, Vinícius Lopes, Yis, Uluç, Tomoum, Hoda, Shamseldin, Hanan, Raiman, Julian, Kernstock, Christoph, Rezende Filho, Flávio Moura, Barsottini, Orlando Graziani Povoas, Taylor, Robert W., Østergaard, Elsebet, Tamim, Abdullah, Schäferhoff, Karin, Sallum, Juliana Maria Ferraz, 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, José Luiz, Maroofian, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8810437/
https://www.ncbi.nlm.nih.gov/pubmed/35141356
http://dx.doi.org/10.1002/mdc3.13398

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