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FKTN gene

Known as: LGMD2M, FCMD GENE, FCMD 
National Institutes of Health

Related topics

Related topics

2 relations
Fukuyama Type Congenital Muscular DystrophyMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect the voluntary… 
Highly Cited
2008
Highly Cited
2008
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12… 
Highly Cited
2006
Highly Cited
2006
Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy
Defects in glycosylation of α‐dystroglycan are associated with several forms of muscular dystrophy, often characterized by… 
Highly Cited
2006
Highly Cited
2006
High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
The prevalence of limb girdle muscular dystrophy type 2I (LGMD2I) in northern Europe is unknown. We investigated this and the… 
Review
2003
Review
2003
Glycosylation defects: a new mechanism for muscular dystrophy?
Recently, post-translational modification of proteins has been defined as a new area of focus for muscular dystrophy research by… 
Highly Cited
2002
Highly Cited
2002
Functional requirements for fukutin-related protein in the Golgi apparatus.
Two forms of congenital muscular dystrophy (CMD), Fukuyama CMD and CMD type 1C (MDC1C) are caused by mutations in the genes… 
Review
2000
Review
2000
The Fukuyama congenital muscular dystrophy story
Highly Cited
1999
Highly Cited
1999
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).
Fukuyama-type congenital muscular dystrophy (FCMD), one of the most common autosomal recessive disorders in the Japanese… 
Highly Cited
1999
Highly Cited
1999
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.
Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation… 
Highly Cited
1993
Highly Cited
1993
Abnormal localization of laminin subunits in muscular dystrophies
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