FKTN gene

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Mutations in fukutin-related protein (FKRP) cause a common subset of muscular dystrophies characterized by aberrant glycosylation… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Review
2008
Review
2008
In the last few years, muscular dystrophies due to reduced glycosylation of alpha-dystroglycan (ADG) have emerged as a common… (More)
  • figure 1
Is this relevant?
Highly Cited
2008
Highly Cited
2008
Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
Highly Cited
2006
Highly Cited
2006
OBJECTIVES The prevalence of limb girdle muscular dystrophy type 2I (LGMD2I) in northern Europe is unknown. We investigated this… (More)
Is this relevant?
Highly Cited
2003
Highly Cited
2003
We describe 22 patients with mutations in the fukutin-related protein (FKPR) gene. Four patients had congenital muscular… (More)
Is this relevant?
Review
2003
Review
2003
Recently, post-translational modification of proteins has been defined as a new area of focus for muscular dystrophy research by… (More)
  • figure 1
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Muscle–eye–brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are congenital muscular dystrophies with… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2001
Highly Cited
2001
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with… (More)
Is this relevant?
Highly Cited
1998
Highly Cited
1998
Fukuyama-type congenital muscular dystrophy (FCMD), one of the most common autosomal recessive disorders in Japan (incidence is 0… (More)
  • figure 1
  • figure 4
  • figure 3
  • figure 5
  • figure 2
Is this relevant?
Highly Cited
1993
Highly Cited
1993
To address potential involvement of muscle basal lamina and membrane cytoskeleton proteins in the etiology of non… (More)
Is this relevant?