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Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

13 Dec 2018

Abstract excerpt

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 selected based on a few clinico-pathologic features and tested for anti-HMGCR autoantibodies (n = 11). These...

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PMID: 30588482
DOI: 10.1212/nxi.0000000000000523

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