Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome

Neuropathol Appl Neurobiol. 2021 Feb;47(2):352-356. doi: 10.1111/nan.12652. Epub 2020 Aug 23.

H Argente-Escrig^{1

2}, D Schultheis³, L Kamm³, M Schowalter³, C Thiel⁴, M Türk⁵, C S Clemen^{3

6

7}, N Muelas^{1

2}, M J Castañón⁸, G Wiche⁸, H Herrmann³, J J Vilchez^{1

9}, R Schröder³

¹ Neuromuscular Reference Centre - ERN EURO-NMD, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
² Neuromuscular Pathology and Ataxia Research Group, Health Research Institute Hospital La Fe, Valencia, Spain.
³ Institute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
⁴ Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
⁵ Department of Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
⁶ Institute of Aerospace Medicine, German Aerospace Centre (DLR), Cologne, Germany.
⁷ Centre for Physiology and Pathophysiology, Institute of Vegetative Physiology, Medical Faculty, University of Cologne, Cologne, Germany.
⁸ Max F. Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, Vienna, Austria.
⁹ CIBERER and Department of Medicine, School of Medicine, University of Valencia, Valencia, Spain.

No abstract available

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