<i>FKRP</i> gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

Abstract

Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts. This adds structural brain defects to the already wide spectrum of abnormalities caused by FKRP mutations. The severe depletion of alpha-dystroglycan expression suggests that FKRP is involved in the processing of alpha-dystroglycan.