Atypical phenotypes in titinopathies explained by second titin mutations-Reference-Cited by-同舟云学术

Atypical phenotypes in titinopathies explained by second titin mutations

Published:2014-02 Issue:2 Volume:75 Page:230-240
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Evilä Anni¹,Vihola Anna¹,Sarparanta Jaakko¹,Raheem Olayinka²,Palmio Johanna²,Sandell Satu²³,Eymard Bruno⁴,Illa Isabel⁵,Rojas-Garcia Ricard⁵,Hankiewicz Karolina⁵,Negrão Luis⁶,Löppönen Tuija⁷,Nokelainen Pekka⁷,Kärppä Mikko⁸,Penttilä Sini²,Screen Mark¹,Suominen Tiina²,Richard Isabelle⁹,Hackman Peter¹,Udd Bjarne¹²¹⁰

Affiliation:

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

2. Neuromuscular Research Center; University of Tampere and Tampere University Hospital; Tampere Finland

3. Seinäjoki Central Hospital; Department of Neurology; Seinäjoki Finland

4. Institute of Myology, National Reference Center for Neuromuscular Disorders; University Hospital of Salpêtrière; Paris France

5. Unitat Patologia Neuromuscular, Servei Neurologia; Hospital Santa Creu i Sant Pau, Universitat Autònoma; Barcelona Spain

6. Neuromuscular Unit, Neurology Department; Coimbra University Hospital; Coimbra Portugal

7. Department of Child Neurology; Kuopio University Hospital; Kuopio Finland

8. Department of Clinical Medicine, Neurology; University of Oulu and Clinical Research Center, Oulu University Hospital; Oulu Finland

9. Généthon; Evry France

10. Neurology Department; Vaasa Central Hospital; Vaasa Finland

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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3. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin;Hackman;Am J Hum Genet,2002

4. Tibial muscular dystrophy in a Belgian family;Bergh;Ann Neurol,2003

5. Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD);Hackman;Neuromuscul Disord,2008

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