Crossmark

A novel case of compound heterozygous GFPT1 congenital myasthenic syndrome with a coexisting heterozygous DYSF mutation: clinical and pathological insights

Crossref DOI link: https://doi.org/10.1007/s10072-025-08642-5

Published Online: 2026-01-17

Published Print: 2026-01

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Moradi, Kamran https://orcid.org/0000-0001-9839-712X
Darki, Leila

Rebbe, Ryan W.

Mathew, Anna J.

Hurth, Kyle M.

Beydoun, Said R.
License Information

Text and Data Mining valid from 2026-01-01

Version of Record valid from 2026-01-01
More Information

Article History

Received: 9 September 2025

Accepted: 11 November 2025

First Online: 17 January 2026

Declarations

:

: Written informed consent was obtained from the patient (and/or their legal guardian) for publication of this case report and any accompanying images. All procedures were conducted in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments.

: The authors declare that they have no conflict of interest.

Document is current

Any future updates will be listed below