Condition: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
rs104894683 in
FKRP gene and
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
PMID 14647208 2003 Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
PMID 11741828 2001 Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
PMID 23800702 2013 Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
PMID 14523375 2004 Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
PMID 30345904 2018 Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
PMID 15060126 2004 FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
PMID 20961759 2011 Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.
PMID 19155270 2009 Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
PMID 16476814 2006 Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
PMID 18639457 2008 Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
PMID 16634037 2006 High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
PMID 24139536 2013 Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
PMID 27439679 2016 FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
PMID 15574464 2005 Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
PMID 19900540 2010 Mutations alter secretion of fukutin-related protein.
PMID 23591631 2013 Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
PMID 11741828 2001 Patients with the C826A change had the clinically less severe LGMD2I phenotype, suggesting that this is a less disruptive FKRP mutation than those found in MDC1C.
PMID 15580560 2005 The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
PMID 12666124 2003 Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation.
PMID 19955119 2010 Zebrafish models for human FKRP muscular dystrophies.
PMID 28454995 2017 A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
PMID 14652796 2004 New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
PMID 18671187 2008 Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.
PMID 23894383 2013 Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
PMID 23420653 2014 Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.
PMID 16368217 2006 Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
PMID 20623375 2010 Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
PMID 27439679 2016 Interestingly, the c.545A>G mutation was found in eight of the nine LGMD2I patients as a founder mutation and this founder mutation in Chinese patients differs from the one seen in European patients.
PMID 25987458 2015 A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
PMID 28629604 2017 Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.
PMID 26320847 2016 First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.
PMID 15833426 2005 Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
PMID 12707425 2003 The phenotype of limb-girdle muscular dystrophy type 2I.
PMID 16344347 2005 Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
PMID 18691338 2009 A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
PMID 17446099 2007 Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.
PMID 11592034 2001 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.
PMID 18160674 2008 Diagnosis and etiology of congenital muscular dystrophy.