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DYSF protein, human

Known as: dysferlin protein, human, dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) protein, human, Dysferlin 
Dysferlin (2080 aa, ~237 kDa) is encoded by the human DYSF gene. This protein plays a role in sarcolemmal membrane dynamics.
National Institutes of Health

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Highly Cited
2010
Highly Cited
2010
Autosomal dominant centronuclear myopathy (AD-CNM) is due to mutations in the gene encoding dynamin 2 (DNM2) involved in… Expand
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Highly Cited
2007
Highly Cited
2007
Dysferlin is a type-II transmembrane protein and the causative gene of limb girdle muscular dystrophy type 2B and Miyoshi… Expand
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Highly Cited
2006
Highly Cited
2006
FER-1 is required for fusion of specialized vesicles, called membranous organelles, with the sperm plasma membrane during… Expand
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Highly Cited
2006
Highly Cited
2006
The tegument surface of the adult schistosome, bounded by a normal plasma membrane overlain by a secreted membranocalyx, holds… Expand
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Highly Cited
2003
Highly Cited
2003
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle… Expand
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Highly Cited
2003
Highly Cited
2003
Mutations in the dysferlin gene cause limb girdle muscular dystrophy type 2B and Miyoshi myopathy. We report here the results of… Expand
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Highly Cited
2003
Highly Cited
2003
Muscle inflammation is characteristic of inflammatory myopathies but also occurs in muscular dystrophy with lack of the… Expand
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2000
2000
Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the… Expand
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Highly Cited
1999
Highly Cited
1999
Recently, a single gene, DYSF, has been identified which is mutated in patients with limb-girdle muscular dystrophy type 2B… Expand
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Highly Cited
1998
Highly Cited
1998
Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome… Expand
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