Alfattal R et al. LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.Am J Med Genet A. 2023;191(5):1401-11. PMID: 36757047.
Čunátová K et al. Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update. J Inherit Metab Dis. 2024;47(6):1278-91. PMID: 39053894.
Dallabona C et al. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Brain. 2016;139:782-94. PMID: 26912632.
Hempel M et al. LYRM7-associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.Mitochondrion. 2017;37:55-61. PMID: 28694194.
Invernizzi F et al. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.Hum Mutat. 2013;34:1619-22. PMID: 24014394.
Zhang J et al. Genotypic spectrum and natural history of cavitating leukoencephalopathies in childhood. Pediatr Neurol. 2019;94:38-47. PMID: 30770271.
Natarajan S et al. Acute devastating multifocal cavitating leukoencephalopathy in a six-year-old girl due to missense mutation in LYRM7 gene.Pediatr Neurol. 2021;117:44-6. PMID: 33662890.
Cherian A et al. Multifocal cavitating leukodystrophy—A distinct image in mitochondrial LYRM7 mutations.Mult Scler Relat Disord. 2021;47:102615. PMID: 33189022.
Parayil Sankaran B et al. Leukodystrophies and genetic leukoencephalopathies in children specified by exome sequencing in an expanded gene panel. J Child Neurol. 2020;35:433-41. PMID: 32180488.
Rezaei M et al. Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation.Acta Neurol Belg. 2024;124(4):1409-10. PMID: 38592654.
Luke ND et al. A novel presentation and variable phenotypic spectrum of homozygous start-loss variant in LYRM7-associated mitochondrial complex III deficiency. Am J Med Genet A. 2025 May 2:e64105. Epub ahead of print. PMID: 40317892.
