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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Gepubliceerd in:Neurol Neuroimmunol Neuroinflamm
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Lippincott Williams & Wilkins 2018
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Article
Online toegang: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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