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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
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Broader (1)

Muscular Dystrophy

Papers overview

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2010
2010
Zebrafish models for human FKRP muscular dystrophies
Various muscular dystrophies are associated with the defective glycosylation of alpha-dystroglycan and are known to result from… Expand
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2006
2006
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
INTRODUCTION FKRP mutations cause a muscular dystrophy which may present in the neonatal period (MDC1C) or later in life (LGMD2I… Expand
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2005
2005
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
Mutations in the gene encoding fukutin-related protein (FKRP) cause a spectrum of diseases including congenital muscular… Expand
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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
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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
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2003
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
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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
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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
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2003
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 life… Expand
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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
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