(Q41809708)

12 October 2017

Autosomal recessive inheritance of classic Bethlem myopathy (English)

1 reference

12 October 2017

A Reghan Foley

1

1 reference

12 October 2017

Ying Hu

2

1 reference

12 October 2017

Yaqun Zou

3

1 reference

12 October 2017

Alexandra Columbus

4

1 reference

12 October 2017

John Shoffner

5

1 reference

12 October 2017

Diane M Dunn

6

1 reference

12 October 2017

Robert B Weiss

7

1 reference

12 October 2017

Carsten G Bönnemann

8

1 reference

12 October 2017

1 November 2009

1 reference

12 October 2017

Neuromuscular Disorders

1 reference

12 October 2017

19

1 reference

12 October 2017

12

1 reference

12 October 2017

813-817

1 reference

A refined diagnostic algorithm for Bethlem myopathy

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Collagen VI related muscle disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Structural basis of type VI collagen dimer formation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

The characterization of amino acid sequences in proteins by statistical methods

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787906

Frameshift mutation in the collagen VI gene causes Ullrich's disease

2 December 2018

1 reference

12 December 2020

Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness

1 reference

12 December 2020

Muscle ultrasound in Bethlem myopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

1 reference

12 December 2020

10.1016/J.NMD.2009.09.010

Identifiers

DOI

1 reference

12 October 2017

1 reference

12 October 2017

PubMed publication ID

19884007

1 reference