PhenomeGene — Human Disease Gene Website SeriesCHKB

Research collaboration

Currently there is no ongoing research on megaconial CMD.

Research collaborators can contact us for the following proposed studies
1.    Newly diagnosed patients with CHKB-related congenital muscular dystrophy - unpublished or published.
2.    Natural history study of Megaconial congenital muscular dystrophy
3.    Studies on the pathomechanistic link between CHKB mutation and the muscle and brain involvement