Article
Differential diagnosis of vacuolar myopathies in the NGS era.
Brain pathology (Zurich, Switzerland) - 1 Sept 2020
Mair Dorothea, Biskup Saskia, Kress Wolfram, Abicht Angela, Brück Wolfgang, Zechel Sabrina, Knop Karl Christian, Koenig Fatima Barbara, Tey Shelisa, Nikolin Stefan, Eggermann Katja, Kurth Ingo, Ferbert Andreas, Weis Joachim
Abstract excerpt
Altered autophagy accompanied by abnormal autophagic (rimmed) vacuoles detectable by light and electron microscopy is a common denominator of many familial and sporadic non-inflammatory muscle diseases. Even in the era of next generation sequencing (NGS), late-onset vacuolar myopathies remain a diagnostic challenge. We identified 32 adult vacuolar myopathy patients from 30 unrelated families, studied their...
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