References:
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
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
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
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
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
Funding
Not applicable.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The author declares no conflict of interest.
Informed consent statement
Not applicable.
Ethical approval statement
Not applicable.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Rezaei, M., Dourandish, Z., Kiani Mehr, G. et al. Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation. Acta Neurol Belg (2024). https://doi.org/10.1007/s13760-024-02529-6
Received:
Accepted:
Published:
DOI: https://doi.org/10.1007/s13760-024-02529-6