Most congenital muscular dystrophies (CMDs) are caused by abnormalities on a number of recessive genes, many of which relate to glycosylation of alpha-dystroglycan. Based on a sporadic case and two patients from the same family:
- an international consortium has identified a new gene called BET1;
- the clinical picture involved a severe form of CMD, combined with epilepsy and central nervous system abnormalities identified using brain imaging;
- BET1 codes a protein involved, like those proteins belonging to the SNARE complex, in the cell processes that allow the fusion of endoplasmic vesicles and exchanges between the Golgi apparatus and the endoplasmic reticulum.
