Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI (Q24629650)

G Pepe

9

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Stefania Petrini

S Petrini

4

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Betti Giusti

B Giusti

7

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Enrico Bertini

E Bertini

2

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author name string

O Camacho Vanegas

1

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R Z Zhang

3

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P Sabatelli

6

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M L Chu

Proceedings of the National Academy of Sciences of the United States of America

8

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language of work or name

English

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publication date

19 June 2001

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published in

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volume

98

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issue

13

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page(s)

7516-21

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cites work

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

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Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy termi

7 April 2017

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Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors

7 April 2017

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A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

7 April 2017

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Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

7 April 2017

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Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

21 January 2018

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Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

7 April 2017

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Biosynthesis and processing of type XVI collagen in human fibroblasts and smooth muscle cells

7 April 2017

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7 April 2017

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Characterization of the human alpha 1(VI) collagen promoter and its comparison with human alpha 2(VI) promoters

7 April 2017

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Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon

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Structure of recombinant N-terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan

7 April 2017

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Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

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Two promoters control the transcription of the human alpha 2(VI) collagen gene

21 January 2018

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Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

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Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

21 January 2018

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Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37

21 January 2018

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A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

21 January 2018

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What is muscular dystrophy? Forty years of progressive ignorance.

21 January 2018

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Cytokine gene expression in human LPS- and IFNgamma-stimulated mononuclear cells is inhibited by heparin

28 November 2018

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12 December 2020

Respiratory muscle involvement in Bethlem myopathy

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12 December 2020

Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion

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12 December 2020

A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)

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Congenital muscular dystrophy with merosin deficiency

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12 December 2020

Identifiers

DOI

10.1073/PNAS.121027598

1 reference

ADS bibcode

2001PNAS...98.7516C

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1 reference

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PubMed publication ID

11381124

1 reference