Vanishing white matter in multiple mitochondrial dysfunction syndrome-2 due to compound heterozygosity for novel BOLA3 variants
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference11 articles.
1. An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation;Nishioka;Brain Dev,2018
2. Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome;Zhan;Metab Brain Dis,2022
3. A review of multiple mitochondrial dysfunction syndromes, syndromes associated with defective Fe-S protein maturation;Lebigot;Biomedicines,2021
4. Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations;Invernizzi;Front Genet,2014
5. Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy;Nikam;Am J Med Genet A,2018
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