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Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion

Crossref DOI link: https://doi.org/10.1007/s10072-023-07102-2

Published Online: 2023-10-04

Published Print: 2024-02

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

Authors

Decio, Alice https://orcid.org/0000-0002-2190-2826
Giorda, Roberto https://orcid.org/0000-0001-8175-9606
Panzeri, Elena https://orcid.org/0000-0001-5063-7403
Bassi, Maria Teresa https://orcid.org/0000-0002-8236-1197
D’Angelo, Maria Grazia https://orcid.org/0000-0003-1241-4350
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Text and Data Mining valid from 2023-10-04

Version of Record valid from 2023-10-04
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Article History

Received: 13 August 2023

Accepted: 26 September 2023

First Online: 4 October 2023

Declarations

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: The informed consent to the publication was collected from the patient’s parents.

: None.

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