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Article

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

BMC medical genomics - 12 Jun 2021

Berti Beatrice, Longo Giovanna, Mari Francesco, Doccini Stefano, Piccolo Ilaria, Donati Maria Alice, Moro Francesca, Guerrini Renzo, Santorelli Filippo M, Petruzzella Vittoria

Abstract excerpt

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, pathogenic variants primarily impact on the peripheral nervous system, corroborating the involvement of MTMR5/SBF1...

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Identifiers

PMID: 34118926
DOI: 10.1186/s12920-021-01001-1
PMCID: PMC8199524

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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