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.
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction / Berti, Beatrice; Longo, Giovanna; Mari, Francesco; Doccini, Stefano; Piccolo, Ilaria; Donati, Maria Alice; Moro, Francesca; Guerrini, Renzo; Santorelli, Filippo M.; Petruzzella, Vittoria. - In: BMC MEDICAL GENOMICS. - ISSN 1755-8794. - ELETTRONICO. - 14:(2021), pp. 0-0. [10.1186/s12920-021-01001-1]
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction
Mari, Francesco;Doccini, Stefano;Donati, Maria Alice;Guerrini, Renzo;
2021
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.
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