Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation
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Springer Science and Business Media LLC
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https://link.springer.com/content/pdf/10.1007/s13760-024-02529-6.pdf
Reference5 articles.
1. Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M et al (2013) A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Hum Mutat 34:1619–1622. https://doi.org/10.1002/humu.22441
2. Hempel M, Kremer LS, Tsiakas K, Alhaddad B, Haack TB, Löbel U et al (2017) LYRM7—associated complex III deficiency: a clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion 37:55–61. https://doi.org/10.1016/j.mito.2017.07.001
3. Dallabona C, Abbink TEM, Carrozzo R, Torraco A, Legati A, van Berkel CGM et al (2016) LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain J Neurol 139:782–794. https://doi.org/10.1093/brain/awv392
4. Roosendaal SD, van de Brug T, Alves CAPF, Blaser S, Vanderver A, Wolf NI et al (2021) Imaging patterns characterizing mitochondrial leukodystrophies. AJNR Am J Neuroradiol 42:1334–1340. https://doi.org/10.3174/ajnr.A7097
5. Alfattal R, Alfarhan M, Algaith AM, Albash B, Elshafie RM, Alshammari A et al (2023) LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes. Am J Med Genet A 191:1401–1411. https://doi.org/10.1002/ajmg.a.63143
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1. Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update;Journal of Inherited Metabolic Disease;2024-07-25
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