@article{9864c16d489e4ae3a6a0fd5f8a4c918e,
title = "Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients",
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 (",
keywords = "limb-girdle muscular dystrophy, Miyoshi muscular dystrophy, neurology, neuromuscular disorders, ANOCTAMIN 5, DUTCH PATIENTS, FOLLOW-UP, PREVALENCE, MUTATIONS, DIAGNOSIS, COHORT, GUIDELINE, PHENOTYPE, FREQUENCY",
author = "{ten Dam}, Leroy and Frankhuizen, {Wendy S.} and Linssen, {Wim H. J. P.} and Straathof, {Chiara S.} and Niks, {Erik H.} and Karin Faber and Annemarie Fock and Kuks, {Jan B.} and Esther Brusse and {de Coo}, Rene and Nicol Voermans and Aad Verrips and Hoogendijk, {Jessica E.} and {van Der Pol}, Ludo and Dineke Westra and {de Visser}, Marianne and {van der Kooi}, {Anneke J.} and Ieke Ginjaar",
note = "Funding Information: E.H.N. reports grants from Spieren voor Spieren, Duchenne Parent Project, ZonMW and AFM. He has been a local investigator in Duchenne Muscular Dystrophy studies conducted by BioMarin, GSK, Lilly, Santhera, Italfarmaco, and Roche outside the submitted work. He also reports consultancies for BioMarin and Summit. All reimbursements were received by the LUMC. C.G.F. reports grants from European Union's Horizon 2020 research and innovation programme, Marie Sklodowska-Curie grant for PAIN-Net, Molecule-to-man pain network (grant no. 721841), European Union 7th Framework Programme (grant no 602273) for the PROPANE study, Prinses Beatrix Spierfonds (W.OR12-01, W.OR15-25, W.OB17-03), Grifols and Lamepro for a trial on IVIg in small fibre neuropathy. J.B.M.K. is a financial advisor for Pfizer regarding amyloid neuropathy. A.V. receives honoraria from serving as a consultant for Leadiant Biosciences, Inc. (USA) and Leadiant Biosciences Ltd (UK). W.L.v.d.P. receives research support from the Prinses Beatrix Spierfonds, Sti-chting Spieren voor Spieren, Netherlands ALS foundation. His employer receives fees for consultancy services to Biogen, Avexis (scientific advisory board) and Novartis (data monitoring committee). M.d.V. is a member of the Data Safety Monitoring Board with AveXis and a member of the Adjucation Committee with Bristol-Myers Squibb Company. A.J.v.d.K. reports a grant from CSL Behring outside the submitted work. The other authors have no disclosures to report. Publisher Copyright: {\textcopyright} 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd",
year = "2019",
month = aug,
doi = "10.1111/cge.13544",
language = "English",
volume = "96",
pages = "126--133",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley",
number = "2",
}