Skip to main content
SpringerLink
Log in

A novel DHTKD1 variant is associated with an atypical form of Charcot–Marie–Tooth disease type 2Q?

  • Letter to the Editor
  • 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

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Data availability

Data generated are available upon request.

References

  1. Morena J, Gupta A, Hoyle JC (2019) Charcot-marie-tooth: From molecules to therapy. Int J Mol Sci 20:1–15

    Article  Google Scholar 

  2. Chad Hoyle J, Isfort MC, Roggenbuck J, David Arnold W (2015) The genetics of Charcot–Marie–Tooth disease: Current trends and future implications for diagnosis and management. Appl Clin Genet 8:235–243

    PubMed  PubMed Central  Google Scholar 

  3. Xu WY et al (2012) A nonsense mutation in DHTKD1 causes charcot-marie-tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet 91:1088–1094

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Luan CJ et al (2020) CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model. Acta Neuropathol Commun 8:1–13

    Article  Google Scholar 

Download references

Acknowledgements

The Authors are grateful to Dr. Filippo Santorelli and his team for his helpful collaboration.

Author information

Authors and Affiliations

  1. Department of Neuroscience “Rita Levi Montalcini”, University of Turin, Turin, Italy

    E. Matteoni, A. Canosa, A. Chiò & C. Moglia

  2. Clinic Neurogenetic Neuroscience Department, University of Turin, Turin, Italy

    S. Gallone

  3. Azienda Ospedaliero-Universitaria Città della salute e della Scienza di Torino, SC, Neurologia 1U, Turin, Italy

    A. Canosa, A. Chiò & C. Moglia

  4. Neuroscience Institute of Turin (NIT), Turin, Italy

    A. Chiò

  5. Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy

    A. Canosa

Authors
  1. E. Matteoni
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. Canosa
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Chiò
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. C. Moglia
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. S. Gallone
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to E. Matteoni.

Ethics declarations

Conflict of interest

All authors declare that they have no conflicts of interest in the present article.

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

Matteoni, E., Canosa, A., Chiò, A. et al. A novel DHTKD1 variant is associated with an atypical form of Charcot–Marie–Tooth disease type 2Q?. Acta Neurol Belg 124, 693–694 (2024). https://doi.org/10.1007/s13760-023-02419-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13760-023-02419-3

Search

Navigation