Associated Papers
Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review.
Kaur N et al.
Annals of Human Genetics, 2025
39575950 (PubMed )
Supplement: supplement_1.xlsx › Clinical_features
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.
Gouiza I et al.
Frontiers in Genetics, 2023
38283147 (PubMed )
Supplement: DataSheet1.PDF
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.
Astner-Rohracher A et al.
Frontiers in Neurology, 2022
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.
Wei X et al.
Human Mutation, 2020
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