(Q28276100)

7

Jeffrey A Towbin

0 references

Barbara McDonough

4

Barbara McDonough

0 references

Jonathan G Seidman

8

J G Seidman

0 references

Christine E. Seidman

9

Christine E Seidman

0 references

Hiroyuki Morita

1

Hiroyuki Morita

0 references

Raju Kucherlapati

6

Raju Kucherlapati

0 references

author name string

Andres Menesses

3

0 references

Amy E Roberts

The New England Journal of Medicine

5

0 references

language of work or name

English

0 references

publication date

1 May 2008

0 references

published in

0 references

volume

358

0 references

page(s)

1899-908

0 references

issue

18

0 references

cites work

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Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study

20 March 2017

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Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency

20 March 2017

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Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

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Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy

20 March 2017

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Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

20 March 2017

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Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

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Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations

29 September 2017

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Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation

29 September 2017

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Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

27 November 2018

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ThePTPN11gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

27 November 2018

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27 November 2018

1 reference

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27 November 2018

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27 November 2018

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27 November 2018

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COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.

27 November 2018

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27 November 2018

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A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

27 November 2018

1 reference

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Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

27 November 2018

1 reference

12 December 2020

Molecular epidemiology of hypertrophic cardiomyopathy

1 reference

12 December 2020

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

1 reference

12 December 2020

Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years

1 reference

12 December 2020

Clinical features and outcomes of childhood hypertrophic cardiomyopathy: results from a national population-based study

1 reference

12 December 2020

Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation

1 reference

12 December 2020

Identifiers

DOI

10.1056/NEJMOA075463

1 reference

3231084

3231084

1 reference

1 reference

1 reference