Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Matteo GaribaldiFabiana FattoriCarlo Augusto BortolottiGuy BrochierClemence LabasseMargherita VerardoEmilia Servian-MorillaLara GibelliniMarcello PintiGiulia Di RoccoSalvatore RaffaElena Maria PennisiEnrico Silvio BertiniCarmen ParadasNorma Beatriz RomeroGiovanni Antonini

Published in: Acta neuropathologica communications (2018)

Keyphrases

late onset
early onset
duchenne muscular dystrophy