Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
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.
|
11592034 |
2001 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
|
11741828 |
2001 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
|
12654965 |
2003 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C).
|
12707425 |
2003 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Congenital muscular dystrophy type 1C and limb girdle muscular dystrophy type 2I are allelic, both being due to mutations in the gene-encoding fukutin-related protein (FKRP).
|
12925572 |
2003 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome, each associated with eye abnormalities and neuronal migration defects, result from mutations in fukutin, POMGnT1 and POMT1, respectively, while mutations in the fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C, typically lacking brain involvement.
|
12966029 |
2003 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
FKRP, encoding a putative glycosyltransferase, has been implicated in causing congenital muscular dystrophy 1C (MDC1C), and has recently been shown to be mutated in LGMD2I.
|
14523375 |
2004 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
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 |
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I).
|
14742276 |
2004 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Motor and sensory nerve conduction velocities (NCVs) and needle electromyography (EMG) results were reviewed in 26 children with different types of congenital muscular dystrophy (CMD), including patients with mutations in the genes LAMA2, FKRP, and COL6A2.
|
14755496 |
2004 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Myodystrophic myd mice and humans with Fukuyama Congenital Muscular Dystrophy (FCMD), congenital muscular dystrophy due to defective fukutin-related protein (FKRP) and MDC1D have mutations in putative glycosyltransferases.
|
15229394 |
2004 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
|
15574464 |
2005 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We found, the first Japanese patient with congenital muscular dystrophy 1C with a novel compound heterozygous mutation in the fukutin-related protein gene.
|
15833426 |
2005 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively reviewed brain magnetic resonance imaging in patients with congenital muscular dystrophy and FKRP gene mutations.
|
16476814 |
2006 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
|
17336067 |
2007 |
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder Limb-Girdle Type 2I form (LGMD2I).
|
18645206 |
2008 |
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding fukutin-related protein (FKRP) cause limb-girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophy (MDC1C).
|
18671187 |
2008 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malformations (Walker Warburg syndrome; muscle-eye-brain disease; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D) to a relatively milder congenital variant with no brain involvement (congenital muscular dystrophy type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N).
|
19019316 |
2008 |
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in the fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) as well as other severe muscle disorders, including Walker-Warburg syndrome, muscle-eye-brain disease, and congenital muscular dystrophy type 1C.
|
19900540 |
2010 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy 2I (LGMD2I) is caused by mutations in the fukutin-related protein gene FKRP, which is also involved in congenital muscular dystrophy (MDC1C).
|
19917824 |
2009 |
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in FKRP have been linked to a variety of phenotypes including Walker-Warburg syndrome (WWS), limb girdle muscular dystrophy (LGMD) 2I and congenital muscular dystrophy 1C (MDC1C).
|
19955119 |
2010 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fukutin-related protein gene FKRP (MIM *606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I).
|
22029705 |
2012 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FKRP gene cause a spectrum of diseases ranging from a limb girdle muscular dystrophy 2I (LGMD2I), to severe Walker-Warburg or muscle-eye-brain forms and a congenital muscular dystrophy (with or without mental retardation) termed MDC1C.
|
23420653 |
2014 |
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Three patients were diagnosed with congenital muscular dystrophy type 1C (MDC1C) and nine patients were diagnosed with limb girdle muscular dystrophy type 2I (LGMD2I).
|
27439679 |
2016 |