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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurol Neuroimmunol Neuroinflamm
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Lippincott Williams & Wilkins 2018
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6292490/
https://ncbi.nlm.nih.gov/pubmed/30588482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXI.0000000000000523
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