Associated Papers
The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
Mohamadian M et al.
The Journal of Gene Medicine, 2020
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
Van Reeuwijk J et al.
Clinical Genetics, 2010
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
Torelli S et al.
Neuromuscular Disorders : Nmd, 2005
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Mercuri E et al.
Annals of Neurology, 2003
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Brockington M et al.
American Journal of Human Genetics, 2001
Select a paper to view details