Scleroatonic muscular dystrophy

Known as: UCMD, UCMD1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 
A rare, autosomal recessive inherited disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at… (More)
National Institutes of Health

Papers overview

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2013
2013
Duchenne muscular Dystrophy (DMD) is an inherited disease caused by mutations in the dystrophin gene that disrupt the open… (More)
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2011
2011
Collagen VI is an extracellular matrix protein forming a microfibrillar network in the endomysium of skeletal muscles. In humans… (More)
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2010
2010
Collagen VI is an integral part of the skeletal muscle extracellular matrix, providing mechanical stability and facilitating… (More)
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2005
2005
In this study, we characterized five Ullrich scleroatonic muscular dystrophy patients (two Italians, one Belgian, and two Turks… (More)
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2005
2005
Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in the three genes coding for the alpha chains of collagen VI… (More)
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2005
2005
Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular… (More)
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2003
2003
Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich… (More)
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2002
2002
We recently reported a severe deficiency in collagen type VI, resulting from recessive mutations of the COL6A2 gene, in patients… (More)
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2002
2002
Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness… (More)
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Highly Cited
2001
Highly Cited
2001
Ullrich syndrome is a recessive congenital muscular dystrophy affecting connective tissue and muscle. The molecular basis is… (More)
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