Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy (Q44403968)

2 December 2017

Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy (English)

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2 December 2017

Tiina Heliö

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Markku Laakso

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12

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Markku Laakso

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Johanna Kuusisto

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Pertti Jääskeläinen

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Raija Miettinen

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Lauri Toivonen

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Maija Kaartinen

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Satu Kärkkäinen

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Eeva Reissell

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Keijo Peuhkurinen

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Petri Tuomainen

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Kari Ylitalo

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2 December 2017

Markku S Nieminen

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2 December 2017

1 December 2004

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European Journal of Heart Failure

2 December 2017

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2 December 2017

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2 December 2017

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2 December 2017

861-868

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Frequency and phenotypes of familial dilated cardiomyopathy.

2 December 2017

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https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Desmin mutation responsible for idiopathic dilated cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Titin mutations as the molecular basis for dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

The molecular genetic basis for hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

A 29 residue region of the sarcomeric myosin rod is necessary for filament formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Progression of left ventricular enlargement in patients with hypertrophic cardiomyopathy: incidence and prognostic value.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Clinicopathologic features of hypertrophic cardiomyopathy managed by cardiac transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin T gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.EJHEART.2004.04.017

10.1016/J.EJHEART.2004.04.017

21 January 2018

Identifiers

DOI

1 reference

2 December 2017

1 reference

PubMed ID

15556047