229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference30 articles.
1. On the classification, natural history and treatment of the myopathies;Walton;Brain,1954
2. The limb-girdle muscular dystrophies – proposal for a new nomenclature;Bushby;Neuromuscul Disord,1995
3. Genetic basis of limb-girdle muscular dystrophies: the 2014 update;Nigro;Acta Myol,2014
4. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss;Servián-Morilla;EMBO Mol Med,2016
5. The classification, natural history and treatment of the limb girdle muscular dystrophies;Murphy;J Neuromuscul Dis,2015
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