rs28937903
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.700
CausalMutation
CLINVAR
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
28454995
2017
rs28937903
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.700
CausalMutation
CLINVAR
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.
23420653
2014
rs28937903
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.700
CausalMutation
CLINVAR
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
23894383
2013
rs28937903
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.700
CausalMutation
CLINVAR
Zebrafish models for human FKRP muscular dystrophies.
19955119
2010
rs28937903
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.700
CausalMutation
CLINVAR
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.
18671187
2008
rs28937903
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.700
CausalMutation
CLINVAR
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
16368217
2006
rs28937903
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.700
CausalMutation
CLINVAR
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
15574464
2005
rs28937903
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.700
CausalMutation
CLINVAR
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
14652796
2004