Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients-Reference-Cited by-同舟云学术

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

Published:2019-05-06 Issue:2 Volume:96 Page:126-133
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

ten Dam Leroy¹^ORCID,Frankhuizen Wendy S.²,Linssen Wim H.J.P.³,Straathof Chiara S.⁴,Niks Erik H.⁴,Faber Karin⁵,Fock Annemarie⁶,Kuks Jan B.⁶,Brusse Esther⁷,de Coo René⁷,Voermans Nicol⁸,Verrips Aad⁹,Hoogendijk Jessica E.¹⁰,van der Pol Ludo¹⁰,Westra Dineke¹¹,de Visser Marianne¹,van der Kooi Anneke J.¹,Ginjaar Ieke²

Affiliation:

1. Department of NeurologyAmsterdam University Medical Centre, Amsterdam Neuroscience Amsterdam The Netherlands

2. Department of Clinical GeneticsLeiden University Medical Centre Leiden The Netherlands

3. Department of NeurologyOLVG‐West Hospital Amsterdam The Netherlands

4. Department of NeurologyLeiden University Medical Centre Leiden The Netherlands

5. Department of NeurologyMaastricht University Medical Centre Maastricht The Netherlands

6. Department of NeurologyUniversity Medical Centre Groningen Groningen The Netherlands

7. Department of NeurologyErasmus MC University Medical Centre Rotterdam The Netherlands

8. Department of NeurologyRadboud University Medical Centre Nijmegen The Netherlands

9. Department of NeurologyCanisius Wilhelmina Hospital Nijmegen Nijmegen The Netherlands

10. Department of NeurologyRudolf Magnus Institute of Neuroscience, University Medical Center Utrecht The Netherlands

11. Department of Human GeneticsRadboud University Medical Centre Nijmegen The Netherlands

Funder

Prinses Beatrix Spierfonds

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13544

Reference32 articles.

1. Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

2. ANO5 mutations in the Dutch limb girdle muscular dystrophy population

3. Limb-girdle muscular dystrophy in the Netherlands: Gene defect identified in half the families

4. 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

5. Progress and challenges in diagnosis of dysferlinopathy

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