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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C

Known as: LGMD1C 
 
National Institutes of Health

Papers overview

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2008
2008
Mutations in the dysferlin gene on Chromosome 2p cause dysferlinopathies which include two distinct clinical entities, Miyoshi… Expand
2005
2005
The dysferlin gene is defective in Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). Dysferlin is a… Expand
Highly Cited
2004
Highly Cited
2004
The effect of endogenous nitric oxide synthase (NOS) on cardiac contractility and architecture has been a matter of debate. A… Expand
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2003
2003
Abstract.Mutations in the human dysferlin gene (DYSF) cause autosomal recessive muscular dystrophies characterized by… Expand
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2003
2003
The effect of endogenous nitric oxide synthase (NOS) on cardiac contractility and architecture has been a matter of debate. A… Expand
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  • table 1
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Highly Cited
2001
Highly Cited
2001
Caveolin-3 is the muscle-specific isoform of the caveolin protein family, which is a major component of caveolae, small membrane… Expand
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Highly Cited
2000
Highly Cited
2000
Caveolin-3 is a muscle-specific protein integrated in the caveolae, which are small invaginations of the plasma membrane… Expand
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Highly Cited
1998
Highly Cited
1998
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal… Expand