Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations (Q24681367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10662809%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations (English)

1 reference

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3 November 2019

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3

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3 November 2019

author name string

R Barresi

1

1 reference

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3 November 2019

C Di Blasi

2

1 reference

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3 November 2019

R Brugnoni

4

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3 November 2019

A Vitali

5

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3 November 2019

G Felisari

6

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3 November 2019

A Salandi

7

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3 November 2019

S Daniel

8

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3 November 2019

F Cornelio

9

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3 November 2019

L Morandi

10

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3 November 2019

M Mora

11

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3 November 2019

language of work or name

English

0 references

publication date

1 February 2000

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Journal of Medical Genetics

3 November 2019

published in

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3 November 2019

volume

37

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3 November 2019

issue

2

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3 November 2019

page(s)

102-107

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Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

3 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

7 April 2017

1 reference

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β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Mutations in the sarcoglycan genes in patients with myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Glycoprotein complex anchoring dystrophin to sarcolemma

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

The sarcoglycan complex in limb-girdle muscular dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

The heart in limb girdle muscular dystrophy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Identification of the Syrian hamster cardiomyopathy gene.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

The role of cytoskeletal proteins in cardiomyopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Association of dystrophin and an integral membrane glycoprotein.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734518

Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy

28 November 2018

1 reference

12 December 2020

Limb-girdle muscular dystrophy 2C: clinical aspects

1 reference

12 December 2020

Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects

1 reference

12 December 2020

Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside

1 reference

12 December 2020

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.2.102

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10662809%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10662809%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

2 references