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Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

Published Online: 2021-06-12

Published Print: 2021-12

Authors

Berti, Beatrice

Longo, Giovanna

Mari, Francesco

Doccini, Stefano

Piccolo, Ilaria

Donati, Maria Alice

Moro, Francesca

Guerrini, Renzo

Santorelli, Filippo M. https://orcid.org/0000-0002-1359-9062
Petruzzella, Vittoria https://orcid.org/0000-0001-8771-6033
Funding

Funding for this research was provided by:

Ministero della Salute (MITO-NEXT)

Regione Puglia (Malattie Rare UPB-SMBNOS)
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Text and Data Mining valid from 2021-06-12

Version of Record valid from 2021-06-12
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Article History

Received: 8 November 2020

Accepted: 6 June 2021

First Online: 12 June 2021

Declarations

:

: This study was approved by the Tuscany Regional Pediatric Ethics Committee. All the procedures complied with the Helsinki Declaration of 1975. Genetic studies were performed after parental written informed consent had been obtained.

: Written informed consent was received for publication of clinical data and brain imaging results from the patient's parents.

: The authors declare that they have no competing interests.

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