A novel mutation, Arg71Thr, in the ?-sarcoglycan gene is associated with dilated cardiomyopathy (Q79177405)

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20 December 2019

title

A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy (English)

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20 December 2019

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

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S00109-003-0480-5

22 March 2024

main subject

dilated cardiomyopathy

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1 reference

https://api.crossref.org/works/10.1007/S00109-003-0480-5

22 March 2024

10

Johanna Kuusisto

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20 December 2019

Satu Kärkkäinen

1

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20 December 2019

Raija Miettinen

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20 December 2019

Petri Tuomainen

3

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20 December 2019

Päivi Kärkkäinen

4

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20 December 2019

Tiina Heliö

5

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20 December 2019

Eeva Reissell

6

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20 December 2019

Maija Kaartinen

7

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20 December 2019

Lauri Toivonen

8

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20 December 2019

Markku Laakso

11

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20 December 2019

Keijo Peuhkurinen

12

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20 December 2019

Markku S. Nieminen

9

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22 March 2024

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14564412

22 March 2024

publication date

15 October 2003

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full work available at URL

20 December 2019

http://link.springer.com/content/pdf/10.1007/s00109-003-0480-5.pdf

file format

Portable Document Format

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Crossref

DOI

https://api.crossref.org/works/10.1007/S00109-003-0480-5

http://link.springer.com/article/10.1007/s00109-003-0480-5/fulltext.html

22 March 2024

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http://link.springer.com/content/pdf/10.1007/s00109-003-0480-5

22 March 2024

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DOI

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Journal of Molecular Medicine

22 March 2024

published in

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20 December 2019

volume

81

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20 December 2019

page(s)

795-800

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20 December 2019

issue

12

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https://scigraph.springernature.com/pub.10.1007/s00109-003-0480-5

20 December 2019

exact match

0 references

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No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy

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

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Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

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Desmin cytoskeleton in muscle integrity and function

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

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Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy

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A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

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

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Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)

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Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

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Many roads lead to a broken heart: the genetics of dilated cardiomyopathy

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Null mutation in the desmin gene gives rise to a cardiomyopathy.

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Limitations in the use of SSCP analysis

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

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X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

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The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity

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Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

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

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Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

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Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes

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Use of DNA toolbox for the characterization of mutation scanning methods. II: evaluation of single-strand conformation polymorphism analysis

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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

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

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Familial dilated cardiomyopathy

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Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy

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