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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.
2018
2018
Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy
Background: Limb-Girdle muscular dystrophies (LGMD) are a heritable group of genetically determined disorders with a primary… 
2017
2017
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a… 
Highly Cited
2014
Highly Cited
2014
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.
Mutations in fukutin-related protein (FKRP) gene cause a wide spectrum of disease phenotypes including the mild limb-girdle… 
Highly Cited
2008
Highly Cited
2008
Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy.
OBJECTIVE To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb… 
Highly Cited
2008
Highly Cited
2008
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
Mutations in fukutin related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset… 
Highly Cited
2005
Highly Cited
2005
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
Background: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy… 
Highly Cited
2005
Highly Cited
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
Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation… 
Highly Cited
2005
Highly Cited
2005
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
2005
2005
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
Highly Cited
2004
Highly Cited
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
The congenital muscular dystrophies (CMD) constitute a clinically and genetically heterogeneous group of autosomal recessive… 
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