Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
Movement Disorders Clinical Practice2021Vol. 9(2), pp. 218–228
Citations Over Time
Francesca Magrinelli, Elisa Calì, Vinícius Lopes Braga, Uluç Yiş, Hoda Tomoum, Hanan E. Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Póvoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horváth, Semra Hız, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian
Abstract
Our case series expands phenotype-genotype correlations in NDUFA12-associated mitochondrial disease, providing evidence of intra- and inter-familial clinical heterogeneity for the same variant. It confirms NDUFA12 variants should be included in the diagnostic workup of Leigh/Leigh-like syndromes - particularly with dystonia - as well as isolated optic atrophy.
Related Papers
- → Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients(2017)72 cited
- → Leigh Disease With Mitochondrial DNA A8344G Mutation: Case Report and Brief Review(2003)22 cited
- → 3-Methylglutaconic Aciduria Type 4 Manifesting as Leigh Syndrome in 2 Siblings(2007)7 cited
- Neuroimage in infants and children with mitochondrial disorders.(1996)
- [Mitochondrial diseases--more common than we realize?].(1991)