Am J Hum Genet 66:428–435 PubMed Google Scholar Brockington M, Blake DJ, Prandini P, Brown SC et al (2001) Mutations in the fukutin-related protein gene ( FKRP ) cause a form
Mercuri EBrockington MStraub V et al Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol. 2003;53:537-542.
Brockington et al. (2001) idetified a gene similar to fukutin, designated " fukutin-related protein (FKRP) ", which was mutated in a severe form of CMD, MDC1C ( OMIM:606596