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FKRP gene

Known as: LGMD2I, FKRP, FUKUTIN-RELATED PROTEIN 
National Institutes of Health

Related topics

Related topics

3 relations
FKRP protein, humanMUSCULAR DYSTROPHY, CONGENITAL, 1CMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy
2017
2017
Expression of glycosylated α‐dystroglycan in newborn skeletal and cardiac muscles of fukutin related protein (FKRP) mutant mice
Introduction: Mutations in the Fukutin related protein (FKRP) gene are characterized by a lack of functionally glycosylated… 
2017
2017
Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene
2015
2015
First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
Dystroglycanopathies are a genetically and clinically heterogeneous group of muscular dystrophies that are characterized by… 
2013
2013
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I
The mechanisms of cardiac dysfunction in limb girdle muscular dystrophy 2I (LGMD2I) are unclear. This study assessed deficits in… 
2011
2011
Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I
Limb-girdle muscular dystrophy 2I (LGMD2I) is a neuromuscular disorder with a heterogeneous phenotype. It is caused by mutations… 
2010
2010
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients
2008
2008
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark
Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is generally recognized as the most prevalent form of recessive… 
2007
2007
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex
2003
2003
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
The authors mapped an autosomal recessive form of limb-girdle MD on chromosome 19q13.3 (LGMD2I), further narrowed down the… 
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