The French National Registry of patients with Facioscapulohumeral muscular dystrophy

Abstract Background Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the development of targeted therapies, patients’ identification through regi...

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Detalhes bibliográficos
Main Authors: Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-12-01
Colecção:Orphanet Journal of Rare Diseases
Assuntos:
Patient registry
Database
Facioscapulohumeral muscular dystrophy
FSHD
FSHD1
FSHD2
Acesso em linha:http://link.springer.com/article/10.1186/s13023-018-0960-x
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