Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

OBJECTIVE: To determine the prevalence and clinical features of anti-HMGCR myopathy among patients with presumed limb-girdle muscular dystrophy (LGMD) in whom genetic testing has failed to elucidate causative mutations. METHODS: Patients with presumed LGMD and unrevealing genetic testing were select...

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Detalles Bibliográficos
Autores principales: Mohassel, Payam, Landon-Cardinal, Océane, Foley, A. Reghan, Donkervoort, Sandra, Pak, Katherine S., Wahl, Colleen, Shebert, Robert T., Harper, Amy, Fequiere, Pierre, Meriggioli, Matthew, Toro, Camilo, Drachman, Daniel, Allenbach, Yves, Benveniste, Olivier, Béhin, Anthony, Eymard, Bruno, Lafôret, Pascal, Stojkovic, Tanya, Mammen, Andrew L., Bönnemann, Carsten G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292490/
https://www.ncbi.nlm.nih.gov/pubmed/30588482
http://dx.doi.org/10.1212/NXI.0000000000000523

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292490/
https://www.ncbi.nlm.nih.gov/pubmed/30588482
http://dx.doi.org/10.1212/NXI.0000000000000523

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