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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Duchenne muscular Dystrophy (DMD) is an inherited disease caused by mutations in the dystrophin gene that disrupt the open… Expand
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Highly Cited
2012
Highly Cited
2012
Collagen VI is a major extracellular matrix (ECM) protein with a critical role in maintaining skeletal muscle functional… Expand
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Highly Cited
2006
Highly Cited
2006
Ullrich congenital muscular dystrophy (UCMD) is caused by recessive and dominant mutations in COL6A genes. We have analysed… Expand
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Highly Cited
2005
Highly Cited
2005
Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular… Expand
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Highly Cited
2005
Highly Cited
2005
In this study, we characterized five Ullrich scleroatonic muscular dystrophy patients (two Italians, one Belgian, and two Turks… Expand
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Highly Cited
2003
Highly Cited
2003
Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich… Expand
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Highly Cited
2002
Highly Cited
2002
Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness… Expand
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Review
2002
Review
2002
  • E. Bertini, G. Pepe
  • European journal of paediatric neurology : EJPN…
  • 2002
  • Corpus ID: 45323873
Collagen type VI is a glycoprotein made up of three genetically distinct a chains, a1(VI), a2(VI) and a3(VI), which assemble in a… Expand
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Highly Cited
2002
Highly Cited
2002
Background Ullrich congenital muscular dystrophy (UCMD) is a form of merosin-positive congenital muscular dystrophy characterized… Expand
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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… Expand
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