Entero-encephalopathy due to FBXL4-related mtDNA depletion syndrome

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1. Köse E, Köse M, Edizer S, et al. Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene. Turk J Pediatr 2020; 62: 652-656.

2. Wang S, Lin L, Wang Y, et al. Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13. J Neurol Sci 2020; 416: 116948.

3. El-Hattab AW, Dai H, Almannai M, et al. Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat 2017; 38: 1649-1659.

4. Finsterer J, Zarrouk-Mahjoub S. Affection of immune cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome. Acta Neurol Belg 2017; 117: 969-970.

5. Finsterer J, Scorza FA, Fiorini AC, Scorza CA. Mitochondrial myoclonic epilepsy requires specific treatment. Seizure 2020; 78: 168-169.

6. Ebrahimi-Fakhari D, Seitz A, Kölker S, Hoffmann GF. Recurrent stroke-like episodes in FBXL4-associated early-onset mitochondrial encephalomyopathy. Pediatr Neurol 2015; 53: 549-550.
Turkish Journal of Pediatrics-Cover
  • ISSN: 0041-4301
  • Yayın Aralığı: Yılda 6 Sayı
  • Başlangıç: 1958
  • Yayıncı: Hacettepe Üniversitesi Çocuk Sağlığı Enstitüsü Müdürlüğü
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