A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Davide PareysonTanya StojkovicMary M ReillySarah Leonard-LouisMatilde LauràJulian BlakeYesim ParmanEsra BattalogluMeriem TazirMounia BellatacheNathalie Bonello-PalotNicolas LévySabrina SacconiRaquel Guimarães-CostaSharham AttarianPhilippe LatourGuilhem SoléAndré MegarbaneRita HorvathGiulia RicciByung-Ok ChoiAngelo SchenoneChiara GemelliAlessandro GeroldiMario SabatelliMarco LuigettiLucio SantoroFiore ManganelliAldo QuattronePaola ValentinoTatsufumi MurakamiSteven S SchererLois DankwaMichael E ShyChelsea J BaconDavid N HerrmannAlberto ZambonIrene TramacereChiara PisciottaStefania MagriStefano Carlo PrevitaliAlessandra BolinoPublished in: Annals of neurology (2019)
This is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019.
Keyphrases