Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies-Reference-Cited by-同舟云学术

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

Published:2014-05-01 Issue:7 Volume:35 Page:779-790
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Marttila Minttu¹,Lehtokari Vilma-Lotta¹,Marston Steven²,Nyman Tuula A.³,Barnerias Christine⁴,Beggs Alan H.⁵,Bertini Enrico⁶,Ceyhan-Birsoy Özge⁵,Cintas Pascal⁷,Gerard Marion⁸,Gilbert-Dussardier Brigitte⁹,Hogue Jacob S.¹⁰,Longman Cheryl¹¹,Eymard Bruno¹²,Frydman Moshe¹³,Kang Peter B.¹⁴,Klinge Lars¹⁵,Kolski Hanna¹⁶,Lochmüller Hans¹⁷,Magy Laurent¹⁸,Manel Véronique¹⁹,Mayer Michèle²⁰,Mercuri Eugenio²¹,North Kathryn N.²²,Peudenier-Robert Sylviane²³,Pihko Helena²⁴,Probst Frank J.²⁵,Reisin Ricardo²⁶,Stewart Willie²⁷,Taratuto Ana Lia²⁸,de Visser Marianne²⁹,Wilichowski Ekkehard³⁰,Winer John³¹,Nowak Kristen³²,Laing Nigel G.³²,Winder Tom L.³³,Monnier Nicole³⁴,Clarke Nigel F.³⁵,Pelin Katarina³⁶,Grönholm Mikaela³⁷,Wallgren-Pettersson Carina¹

Affiliation:

1. The Folkhälsan Institute of Genetics and the Department of Medical Genetics; University of Helsinki, Haartman Institute; Biomedicum Helsinki Finland

2. National Heart and Lung Institute; Imperial College London; London UK

3. Institute of Biotechnology; University of Helsinki; Helsinki Finland

4. Cliniques des maladies du développement CHU Paris; Paris France

5. Division of Genetics and Genomics; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School; Boston Massachusetts

6. Unit of Neuromuscular and Neurodegenerative Disorders; Bambino Gesu’ Children's Research Hospital; Rome Italy

7. Centre de reference de pathologie neuromusculaire; CHU Toulouse; Toulouse France

8. Service de Génétique; CHU Clémenceau; Caen France

9. Genetics, University Hospital La Miletrie; Poitiers France

10. The Department of Pediatrics; San Antonio Military Medical Center; Houston Texas

11. West of Scotland Regional Genetics Service; Glasgow UK

12. Centre de Référence de pathologie neuromusculaire Paris-Est; Groupe Hospitalier Pitié-Salpêtrière; Paris France

13. Danek Gertner Institute of Human Genetics, Sheba Medical Center; Tel Aviv University; Tel Aviv Israel

14. Department of Neurology; Boston Children's Hospital and Harvard Medical School; Boston Massachusetts

15. University Medical Centre Göttingen; Göttingen Germany

16. Glenrose Rehabilitation Hospital; University of Alberta; Alberta Canada

17. Institute of Genetic Medicine; Newcastle University, Tyne and Wear; UK

18. National Referral Center for Rare Peripheral Neuropathies; Centre Hospitalier Universitaire; Limoges France

19. Centre de Référence des Maladies Neuromusculaires Rhône-Alpes; Hôpital Femme-Mère-Enfant; Lyon France

20. Centre de Référence et de Suivi des Maladies Neuromusculaires; Hôpital Trousseau; Paris France

21. Pediatric Neurology; Catholic University; Rome Italy

22. Murdoch Children's Research Institute; Melbourne Australia

23. Pôle de la Femme, de la Mère et de l’Enfant; Centre Hospitalier Régional Universitaire Brest; Brest France

24. University of Helsinki Central Hospital; Helsinki Finland

25. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

26. Hospital Británico de Buenos Aires; Buenos Aires Argentina

27. Department of Pathology; Southern General Hospital; Glasgow UK

28. Department of Neuropathology, Institute for Neurological Research; FLENI, Buenos Aires; Argentina

29. Department of Neurology; Academic Medical Center; Amsterdam The Netherlands

30. Department of Pediatrics and Pediatric Neurology; Georg August University, Göttingen; Germany

31. University Hospital Birmingham; Queen Elizabeth Hospital; Birmingham UK

32. Molecular Neurogenetics Laboratory; Centre for Medical Research, University of Western Australia; Nedlands Australia

33. PreventionGenetics; Marshfield Massachusetts

34. Laboratoire de Biochimie et Génétique Moléculaire; IBP-CHU Grenoble; Grenoble France

35. INMR, The Children's Hospital at Westmead and Sydney Medical School; University of Sydney; Sydney Australia

36. Division of Genetics; Department of Biosciences, University of Helsinki; Helsinki Finland

37. Division of Biochemistry and Biotechnology; Department of Biosciences, University of Helsinki; Finland

Funder

Assocation Francaise contre les Myopathies

The Finska Lï¿½karesï¿½llskapet

the Sigrid Jusï¿½lius Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference62 articles.

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2. Expression and biological activity of baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy;Akkari;Biochem Biophys Res Commun,2002

3. Evolutionarily conserved surface residues constitute actin binding sites of tropomyosin;Barua;Proc Natl Acad Sci USA,2011

4. Structure of the rigor actin-tropomyosin-myosin complex;Behrmann;Cell,2012

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