Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

Limb girdle muscular dystrophy is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation. Autosomal dominant LGMD represent 10% of all LGMDs. HNRNPDL-related muscular dystrophy, LGMD1G/LGMD D3 (MIM#60911...

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Detalles Bibliográficos
Autores principales: Malfatti, Edoardo, Cassandrini, Denise, Rubegni, Anna, Sartorelli, Filippo M., Villanova, Marcello
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460734/
https://www.ncbi.nlm.nih.gov/pubmed/32904822
http://dx.doi.org/10.36185/2532-1900-013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460734/
https://www.ncbi.nlm.nih.gov/pubmed/32904822
http://dx.doi.org/10.36185/2532-1900-013

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