The French National Registry of patients with Facioscapulohumeral muscular dystrophy

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 registries c...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: Guien, Céline, Blandin, Gaëlle, Lahaut, Pauline, Sanson, Benoît, Nehal, Katia, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Lévy, Nicolas, Sacconi, Sabrina, Béroud, Christophe
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2018
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6280451/
https://ncbi.nlm.nih.gov/pubmed/30514324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0960-x
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