Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

K. Bouman*, J.T. Groothuis, J. Doorduin, N. van Alfen, F.E.A.U. ten Cate, F.M.A. van den Heuvel, R. Nijveldt, W.C.M. van Tilburg, S.C.F.M. Buckens, A.T.M. Dittrich, J.M.T. Draaisma, M.C.H. Janssen, E.J. Kamsteeg, E.S.B. van Kleef, S. Koene, J.A.M. Smeitink, B. Kusters, F.H.J. van Tienen, H.J.M. Smeets, B.G.M. van EngelenC.E. Erasmus, N.C. Voermans

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number313
Number of pages14
JournalBMC Neurology
Volume21
Issue number1
DOIs
Publication statusPublished - 12 Aug 2021

Keywords

  • LAMA2
  • Laminin subunit a2 deficiency
  • Merosin-deficient congenital muscular dystrophy type 1A (MDC1A)
  • SELENON
  • SEPN1
  • Natural history
  • Outcome measures
  • Trial readiness
  • All ages
  • SKELETAL-MUSCLE PATHOLOGY
  • SELENOPROTEIN-N
  • OXIDATIVE STRESS
  • REFERENCE VALUES
  • DUCHENNE DYSTROPHY
  • CLINICAL-TRIALS
  • RELIABILITY
  • VALIDATION
  • ULTRASOUND
  • QUESTIONNAIRE

Cite this