Skip to main content
Log in

Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation

  • Neuro-Images
  • Published:
Acta Neurologica Belgica Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References:

  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

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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

    Article  Google Scholar 

  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

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

Download references

Funding

Not applicable.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Farzad Fatehi.

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

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

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

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s13760-024-02529-6

Keywords

Navigation