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

BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy associated with variants in the MTMR5/SBF1 gene. MTMR5/SBF1 is a pseudophosphatase predicted to regulate endo-lysosomal trafficking in tandem with other MTMRs. Although almost ubiquitously expressed,...

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Detalles Bibliográficos
Autores principales: Berti, Beatrice, Longo, Giovanna, Mari, Francesco, Doccini, Stefano, Piccolo, Ilaria, Donati, Maria Alice, Moro, Francesca, Guerrini, Renzo, Santorelli, Filippo M., Petruzzella, Vittoria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8199524/
https://www.ncbi.nlm.nih.gov/pubmed/34118926
http://dx.doi.org/10.1186/s12920-021-01001-1

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