Fukutin-related protein ( FKRP ) mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells


Mutations in the gene encoding fukutin-related protein (FKRP) cause a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies with brain malformations and mental retardation. Whilst these diseases are associated with abnormal dystroglycan processing the… (More)

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