Literature DB >> 11377367

The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

O Havndrup1, H Bundgaard, P S Andersen, L A Larsen, J Vuust, K Kjeldsen, M Christiansen.   

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Year:  2001        PMID： 11377367     DOI： 10.1016/s0002-9149(01)01532-6

Source DB:  PubMed          Journal:  Am J Cardiol        ISSN： 0002-9149            Impact factor:   2.778


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  10 in total

1.  From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy.

Authors:  S L Van Driest; B J Maron; M J Ackerman
Journal:  Heart       Date:  2004-01       Impact factor: 5.994

Review 2.  Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.

Authors:  Thomas E Callis; Brian C Jensen; Karen E Weck; Monte S Willis
Journal:  Expert Rev Mol Diagn       Date:  2010-04       Impact factor: 5.225

3.  Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.

Authors:  I Christiaans; E A Nannenberg; D Dooijes; R J E Jongbloed; M Michels; P G Postema; D Majoor-Krakauer; A van den Wijngaard; M M A M Mannens; J P van Tintelen; I M van Langen; A A M Wilde
Journal:  Neth Heart J       Date:  2010-05       Impact factor: 2.380

Review 4.  Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

Authors:  Andrew P Landstrom; Michael J Ackerman
Journal:  Circulation       Date:  2010-12-07       Impact factor: 29.690

5.  The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.

Authors:  Lauren E Parker; Andrew P Landstrom
Journal:  Prog Pediatr Cardiol       Date:  2021-07-01

6.  Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy.

Authors:  Taranjit Singh Rai; Shamim Ahmad; Ajay Bahl; Monica Ahuja; Tarunveer Singh Ahluwalia; Balvinder Singh; K K Talwar; Madhu Khullar
Journal:  Mol Cell Biochem       Date:  2008-10-25       Impact factor: 3.396

7.  β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.

Authors:  Robert Blankenburg; Katarzyna Hackert; Sebastian Wurster; René Deenen; J G Seidman; Christine E Seidman; Martin J Lohse; Joachim P Schmitt
Journal:  Circ Res       Date:  2014-05-14       Impact factor: 17.367

8.  Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy.

Authors:  Reena Tanjore; Advithi Rangaraju; Shivani Vadapalli; Sushant Remersu; Calambur Narsimhan; Pratibha Nallari
Journal:  Indian J Hum Genet       Date:  2010-05

Review 9.  Hypertrophic cardiomyopathy: how do mutations lead to disease?

Authors:  Júlia Daher Carneiro Marsiglia; Alexandre Costa Pereira
Journal:  Arq Bras Cardiol       Date:  2014-03       Impact factor: 2.000

Review 10.  Recent Non-Invasive Parameters to Identify Subjects at High Risk of Sudden Cardiac Death.

Authors:  Maria Delia Corbo; Enrica Vitale; Maurizio Pesolo; Grazia Casavecchia; Matteo Gravina; Pierluigi Pellegrino; Natale Daniele Brunetti; Massimo Iacoviello
Journal:  J Clin Med       Date:  2022-03-10       Impact factor: 4.241
  10 in total

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