 |
Journal articles
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.
Simona Gambelli
1, *
Alessandro Malandrini
1
Gianna Berti
1
Carmen Gaudiano
1
Enza Zicari
1
Paola Brunori
2
Gianfranco Perticoni
2
Alfredo Orrico
3
Lucia Galli
3
Vincenzo Sorrentino
3, 4
Joël Lunardi
5
Antonio Federico
1
Maria Teresa Dotti
1
Simona Gambelli 1
Correspondent author
Alessandro Malandrini 1
Author
Gianna Berti 1
Author
Carmen Gaudiano 1
Author
Lucia Galli 3
Author
Vincenzo Sorrentino 3, 4
Author
Joël Lunardi 5
Author
Antonio Federico 1
Author
Maria Teresa Dotti 1
Author
1
Unit of Neurometabolic Diseases (Department of Neurological and Behavioural Sciences University of Siena Viale Bracci, 2 53100 Siena - Italy)
3
Unit of molecular medicine (Department of Oncology - Italy)
4
Section of molecular medicine (Department of Neuroscience, via Aldo Moro 5, Siena - Italy)
5
Canaux calciques , fonctions et pathologies (17, rue des martyrs 38054 Grenoble - France)
- UJF - Université Joseph Fourier - Grenoble 1 (BP 53 - 38041 Grenoble Cedex 9 - France)
- CEA - Commissariat à l'énergie atomique et aux énergies alternatives : DSV/IRTSV (Centre de Saclay Centre de Grenoble Centre de Cadarache etc - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U607 (101, rue de Tolbiac, 75013 Paris - France)
Abstract : Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.
Document type :
Journal articles
Domain :
Complete list of metadatas
https://www.hal.inserm.fr/inserm-00381946
Contributor : Nathalie Roux-Buisson <>
Submitted on : Thursday, July 9, 2009 - 10:30:29 AM
Last modification on : Friday, December 22, 2017 - 3:02:15 PM
Long-term archiving on: : Saturday, November 26, 2016 - 9:12:38 AM
Contributor : Nathalie Roux-Buisson <>
Submitted on : Thursday, July 9, 2009 - 10:30:29 AM
Last modification on : Friday, December 22, 2017 - 3:02:15 PM
Long-term archiving on: : Saturday, November 26, 2016 - 9:12:38 AM
File
Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamaisPlease log in to resquest access to the document
Identifiers
- HAL Id : inserm-00381946, version 1
- DOI : 10.1111/j.1399-0004.2006.00725.x
- PUBMED : 17204054
Citation
Simona Gambelli, Alessandro Malandrini, Gianna Berti, Carmen Gaudiano, Enza Zicari, et al.. Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.. Clinical Genetics, Wiley, 2007, 71 (1), pp.93-4. ⟨10.1111/j.1399-0004.2006.00725.x⟩. ⟨inserm-00381946⟩
Metrics
Record views