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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 
* Corresponding author
1 Unit of Neurometabolic Diseases
2 Unit of Neurophysiopatology
3 Unit of molecular medicine
4 Section of molecular medicine
5 Canaux calciques , fonctions et pathologies
Abstract : Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.
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https://www.hal.inserm.fr/inserm-00381946
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Submitted on : Thursday, July 9, 2009 - 10:30:29 AM
Last modification on : Friday, November 6, 2020 - 3:48:32 AM
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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⟩

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