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Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.

AuthorsH Argente-Escrig, D Schultheis, L Kamm, M Schowalter, C Thiel, M Türk, C S Clemen, N Muelas, M J Castañón, G Wiche, H Herrmann, J J Vilchez, R Schröder
JournalNeuropathology and applied neurobiology (Neuropathol Appl Neurobiol) Vol. 47 Issue 2 Pg. 352-356 (02 2021) ISSN: 1365-2990 [Electronic] England
PMID32757300 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Adrenergic Agents
  • PLEC protein, human
  • Plectin
  • Ephedrine
Topics
  • Adrenergic Agents (therapeutic use)
  • Adult
  • Ephedrine (therapeutic use)
  • Frameshift Mutation
  • Humans
  • Male
  • Muscular Dystrophy, Emery-Dreifuss (complications, genetics, pathology)
  • Myasthenic Syndromes, Congenital (drug therapy, genetics)
  • Plectin (genetics)

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