Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation-Reference-Cited by-同舟云学术

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

Published:2019-09-15 Issue:1 Volume:41 Page:17-37
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Morin Gilles¹²³,Biancalana Valérie³⁴⁵⁶⁷,Echaniz‐Laguna Andoni⁸⁹¹⁰,Noury Jean‐Baptiste¹¹,Lornage Xavière³⁴⁵⁶,Moggio Maurizio¹²,Ripolone Michela¹²,Violano Raffaella¹²,Marcorelles Pascale¹³,Maréchal Denis¹¹,Renaud Florence¹⁴,Maurage Claude‐Alain¹⁴,Tard Céline¹⁵,Cuisset Jean‐Marie¹⁶,Laporte Jocelyn³⁴⁵⁶^ORCID,Böhm Johann³⁴⁵⁶^ORCID

Affiliation:

1. Clinical GeneticsAmiens University HospitalAmiens France

2. University of Picardy Jules Verne EA 4666 Amiens France

3. Department of translational medicine and NeurogeneticsInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC)Illkirch France

4. Inserm U1258Illkirch France

5. CNRS UMR7104Illkirch France

6. Strasbourg UniversityIllkirch France

7. Laboratoire Diagnostic GénétiqueCHRUStrasbourg France

8. Department of NeurologyAPHP, CHU de BicêtreLe Kremlin Bicêtre France

9. French National Reference Center for Rare Neuropathies (NNERF) Le Kremlin Bicêtre France

10. Inserm U1195 & Paris‐Sud University Le Kremlin Bicêtre France

11. Department of NeurologyCHRU Cavale BlancheBrest France

12. Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' GrandaOspedale Maggiore PoliclinicoMilan Italy

13. Department of Pathology ‐ EA 4685 LNBCHRU MorvanBrest France

14. Department of PathologyLille University HospitalLille France

15. CHU Lille, Inserm U1171, Service de neurologie, Centre de Référence des Maladies Neuromusculaires Nord Est Ile‐de‐FranceLille UniversityLille France

16. Service de NeuropédiatrieCHRU de LilleLille France

Funder

Association Française contre les Myopathies

Institut National de la Santé et de la Recherche Médicale

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Centre National de la Recherche Scientifique

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23899