Literature DB >> 17383184

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.

S Overeem1, H J Schelhaas, P J Blijham, M I Grootscholten, H J ter Laak, J Timmermans, A van den Wijngaard, M J Zwarts.   

Abstract

Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy (several exons), myosin storage myopathy (exon 37/39) or Laing distal myopathy (exons 32-36). Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17383184     DOI： 10.1016/j.nmd.2007.02.007

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  10 in total

1.  A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

Authors:  Odile Dubourg; Thierry Maisonobe; Anthony Behin; Tiina Suominen; Olayinka Raheem; Sini Penttilä; Matt Parton; Bruno Eymard; Arve Dahl; Bjarne Udd
Journal:  J Neurol       Date:  2011-01-30       Impact factor: 4.849

2.  MYH7 mutation associated with two phenotypes of myopathy.

Authors:  Nan Li; Zhe Zhao; Hongrui Shen; Qi Bing; Xuan Guo; Jing Hu
Journal:  Neurol Sci       Date:  2017-11-24       Impact factor: 3.307

3.  Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member.

Authors:  Martin Dahl-Halvarsson; Montse Olive; Malgorzata Pokrzywa; Katarina Ejeskär; Ruth H Palmer; Anne Elisabeth Uv; Homa Tajsharghi
Journal:  Proc Natl Acad Sci U S A       Date:  2018-06-26       Impact factor: 11.205

4.  Thick and thin filament gene mutations in striated muscle diseases.

Authors:  Homa Tajsharghi
Journal:  Int J Mol Sci       Date:  2008-07-16       Impact factor: 6.208

5.  Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.

Authors:  Tiago Veltri; Maicon Landim-Vieira; Michelle S Parvatiyar; David Gonzalez-Martinez; Karissa M Dieseldorff Jones; Clara A Michell; David Dweck; Andrew P Landstrom; P Bryant Chase; Jose R Pinto
Journal:  Front Physiol       Date:  2017-04-20       Impact factor: 4.566

6.  A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.

Authors:  Jean Mamelona; Louisa Filice; Youcef Oussedik; Nicolas Crapoulet; Rodney J Ouellette; Alier Marrero
Journal:  BMC Med Genet       Date:  2019-05-08       Impact factor: 2.103

Review 7.  Update on Congenital Myopathies in Adulthood.

Authors:  George Konstantinos Papadimas; Sophia Xirou; Evangelia Kararizou; Constantinos Papadopoulos
Journal:  Int J Mol Sci       Date:  2020-05-24       Impact factor: 5.923

8.  Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Authors:  Phillipa J Lamont; William Wallefeld; David Hilton-Jones; Bjarne Udd; Zohar Argov; Alexandru C Barboi; Carsten Bonneman; Kym M Boycott; Kate Bushby; Anne M Connolly; Nicholas Davies; Alan H Beggs; Gerald F Cox; Jahannaz Dastgir; Elizabeth T DeChene; Rebecca Gooding; Heinz Jungbluth; Nuria Muelas; Johanna Palmio; Sini Penttilä; Eric Schmedding; Tiina Suominen; Volker Straub; Christopher Staples; Peter Y K Van den Bergh; Juan J Vilchez; Kathryn R Wagner; Patricia G Wheeler; Elizabeth Wraige; Nigel G Laing
Journal:  Hum Mutat       Date:  2014-05-21       Impact factor: 4.878

9.  A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.

Authors:  Leonardo Murgiano; Imke Tammen; Barbara Harlizius; Cord Drögemüller
Journal:  BMC Genet       Date:  2012-11-15       Impact factor: 2.797

Review 10.  Myosinopathies: pathology and mechanisms.

Authors:  Homa Tajsharghi; Anders Oldfors
Journal:  Acta Neuropathol       Date:  2012-08-05       Impact factor: 17.088
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.