Differential diagnosis of vacuolar myopathies in the NGS era

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 diag...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Brain Pathol
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Research Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8017999/
https://ncbi.nlm.nih.gov/pubmed/32419263
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bpa.12864
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