Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

OBJECTIVE: The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital muscular dystrophies MDC1C, Muscle–Eye–Brain Disease and Walker–Warburg Syndrom...

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Detalles Bibliográficos
Autores principales: Murphy, Lindsay B., Schreiber‐Katz, Olivia, Rafferty, Karen, Robertson, Agata, Topf, Ana, Willis, Tracey A., Heidemann, Marcel, Thiele, Simone, Bindoff, Laurence, Laurent, Jean‐Pierre, Lochmüller, Hanns, Mathews, Katherine, Mitchell, Claudia, Stevenson, John Herbert, Vissing, John, Woods, Lacey, Walter, Maggie C., Straub, Volker
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261761/
https://www.ncbi.nlm.nih.gov/pubmed/32342672
http://dx.doi.org/10.1002/acn3.51042

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