Article
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Neurology - 28 Apr 2015
Semplicini Claudio, Vissing John, Dahlqvist Julia R, Stojkovic Tanya, Bello Luca, Witting Nanna, Duno Morten, Leturcq France, Bertolin Cinzia, D'Ambrosio Paola, Eymard Bruno, Angelini Corrado, Politano Luisa, Laforêt Pascal, Pegoraro Elena
Abstract excerpt
OBJECTIVE: To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease. METHODS: All LGMD2E patients followed in participating centers were included. A specific clinical protocol was created, including quantitative evaluation of motor, respiratory, and cardiac function. Phenotype was defined as...
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