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

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

Abstract 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 ex...

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Main Authors: Beatrice Berti (Author), Giovanna Longo (Author), Francesco Mari (Author), Stefano Doccini (Author), Ilaria Piccolo (Author), Maria Alice Donati (Author), Francesca Moro (Author), Renzo Guerrini (Author), Filippo M. Santorelli (Author), Vittoria Petruzzella (Author)
Format: Book
Published: BMC, 2021-06-01T00:00:00Z.
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3rd Floor Main Library

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