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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

Papers overview

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Highly Cited
2010
Highly Cited
2010
Various muscular dystrophies are associated with the defective glycosylation of α-dystroglycan and are known to result from… Expand
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Review
2005
Review
2005
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
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
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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Highly Cited
2003
Highly Cited
2003
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
Background: Congenital muscular dystrophies (CMD) are autosomal recessive disorders that present within the first 6 months of… Expand
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Highly Cited
2003
Highly Cited
2003
Autosomal recessive limb-girdle muscular dystrophy linked to 19q13.3 (LGMD2I) was recently related to mutations in the fukutin… Expand
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Highly Cited
2003
Highly Cited
2003
The congenital muscular dystrophies (CMD) constitute a clinically and genetically heterogeneous group of autosomal recessive… Expand
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Review
2003
Review
2003
Abstract. The gene mutated in the myodystrophy mouse, a model of muscular dystrophy, encodes a putative glycosyltransferase… Expand
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Highly Cited
2001
Highly Cited
2001
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic… Expand
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