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

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Abstract

In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (

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

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