Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.

Auteurs

Bisciglia M, Kadhim H, Lecomte S, Vandernoot I, Desmyter L, Remiche G

  • Date de publication

    May 2024
  • Type

    Article
  • Review

    J Neuromuscul Dis
  • Researcher's name

    Bisciglia Michela
  • Hôpital

    Hôpital Erasme
  • Service

    Neurologie
  • PMID

    38788083
  • DOI

    10.3233/JND-230020