(Q34327042)

1 August 2017

title

Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? (English)

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1 August 2017

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10

Volker Straub

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1 August 2017

Ralf Bauer

1

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1 August 2017

Judith Hudson

2

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1 August 2017

Harald D Müller

3

1 reference

1 August 2017

Clemens Sommer

4

1 reference

1 August 2017

Gabriele Dekomien

5

1 reference

1 August 2017

John Bourke

6

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1 August 2017

Daniel Routledge

7

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1 August 2017

Kate Bushby

8

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1 August 2017

Jörg Klepper

9

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1 August 2017

publication date

4 March 2009

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

17

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1 August 2017

issue

9

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1 August 2017

page(s)

1148-1153

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Consequences of disrupting the dystrophin-sarcoglycan complex in cardiac and skeletal myopathy

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Zeta-sarcoglycan is a functional homologue of gamma-sarcoglycan in the formation of the sarcoglycan complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Molecular and cell biology of the sarcoglycan complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

The 10 autosomal recessive limb-girdle muscular dystrophies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Cardiomyopathies: from genetics to the prospect of treatment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. Implications for the regulation of Sarcoglycan assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Molecular basis of muscular dystrophies.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Identification of the Syrian hamster cardiomyopathy gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.17

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.17

Frequency and phenotypes of familial dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.17

Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986598

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.17

A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.17

A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.17

A novel mutation, Arg71Thr, in the ?-sarcoglycan gene is associated with dilated cardiomyopathy

21 January 2018

1 reference

12 December 2020

Familial dilated cardiomyopathy

1 reference

12 December 2020

Dilated cardiomyopathy: more genes means more phenotypes

1 reference

12 December 2020

Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes

1 reference

12 December 2020

Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.17

1 reference

1 August 2017

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1 August 2017

1 reference