Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

MUSCULAR DYSTROPHY, CONGENITAL, 1C

Known as: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED, MDC1C, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 
 
National Institutes of Health

Related topics

Related topics

17 relations
Autosomal recessive inheritanceCerebellar atrophyContracture of tendo achillesFKRP gene
Expand

Broader (1)

Muscular Dystrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Zebrafish models for human FKRP muscular dystrophies
Various muscular dystrophies are associated with the defective glycosylation of α-dystroglycan and are known to result from… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Review
2005
Review
2005
Glyc‐O‐genetics of Walker–Warburg syndrome
Walker–Warburg syndrome (WWS) is the most severe of a group of multiple congenital anomaly disorders known as the cobblestone… Expand
Highly Cited
2004
Highly Cited
2004
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type… Expand
Highly Cited
2003
Highly Cited
2003
The phenotype of limb-girdle muscular dystrophy type 2I
Background: Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of… Expand
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • table 2
Highly Cited
2003
Highly Cited
2003
Phenotypic spectrum associated with mutations in the fukutin‐related protein gene
We describe 22 patients with mutations in the fukutin‐related protein (FKPR) gene. Four patients had congenital muscular… Expand
Highly Cited
2003
Highly Cited
2003
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts
Background: Congenital muscular dystrophies (CMD) are autosomal recessive disorders that present within the first 6 months of… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Highly Cited
2003
Highly Cited
2003
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
Autosomal recessive limb-girdle muscular dystrophy linked to 19q13.3 (LGMD2I) was recently related to mutations in the fukutin… Expand
  • table 1
  • table 2
  • table 3
  • figure 1
  • figure 2
Highly Cited
2003
Highly Cited
2003
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… Expand
  • table 2
Review
2003
Review
2003
Glycosylation defects in inherited muscle disease
Abstract. The gene mutated in the myodystrophy mouse, a model of muscular dystrophy, encodes a putative glycosyltransferase… Expand
  • figure 1
Highly Cited
2001
Highly Cited
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.
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic… Expand
  • table 1
  • figure 1
  • table 2
  • figure 2
  • figure 3
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE