Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Leroy ten Dam*, Wendy S. Frankhuizen, Wim H. J. P. Linssen, Chiara S. Straathof, Erik H. Niks, Karin Faber, Annemarie Fock, Jan B. Kuks, Esther Brusse, Rene de Coo, Nicol Voermans, Aad Verrips, Jessica E. Hoogendijk, Ludo van Der Pol, Dineke Westra, Marianne de Visser, Anneke J. van der Kooi, Ieke Ginjaar

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)126-133
Number of pages8
JournalClinical Genetics
Volume96
Issue number2
DOIs
Publication statusPublished - Aug 2019

Keywords

  • limb-girdle muscular dystrophy
  • Miyoshi muscular dystrophy
  • neurology
  • neuromuscular disorders
  • ANOCTAMIN 5
  • DUTCH PATIENTS
  • FOLLOW-UP
  • PREVALENCE
  • MUTATIONS
  • DIAGNOSIS
  • COHORT
  • GUIDELINE
  • PHENOTYPE
  • FREQUENCY

Cite this

ten Dam, L., Frankhuizen, W. S., Linssen, W. H. J. P., Straathof, C. S., Niks, E. H., Faber, K., Fock, A., Kuks, J. B., Brusse, E., de Coo, R., Voermans, N., Verrips, A., Hoogendijk, J. E., van Der Pol, L., Westra, D., de Visser, M., van der Kooi, A. J., & Ginjaar, I. (2019). Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Clinical Genetics, 96(2), 126-133. https://doi.org/10.1111/cge.13544