ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation-Reference-Cited by-同舟云学术

ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Published:2013-06-12 Issue:8 Volume:34 Page:1111-1118
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sarkozy Anna¹,Hicks Debbie¹,Hudson Judith¹,Laval Steve H.¹,Barresi Rita²,Hilton-Jones David³,Deschauer Marcus⁴,Harris Elizabeth¹,Rufibach Laura⁵,Hwang Esther⁵,Bashir Rumaisa⁶,Walter Maggie C.⁷,Krause Sabine⁷,van den Bergh Peter⁸,Illa Isabel⁹,Pénisson-Besnier Isabelle¹⁰,De Waele Liesbeth¹,Turnbull Doug¹¹¹²,Guglieri Michela¹,Schrank Bertold¹³,Schoser Benedikt⁷,Seeger Jürgen¹³,Schreiber Herbert¹⁴,Gläser Dieter¹⁵,Eagle Michelle¹,Bailey Geraldine¹,Walters Richard¹⁶,Longman Cheryl¹⁷,Norwood Fiona¹⁸,Winer John¹⁹,Muntoni Francesco²⁰²¹,Hanna Michael²⁰²²,Roberts Mark²³,Bindoff Laurence A.²⁴,Brierley Charlotte²⁵,Cooper Robert G.²⁶,Cottrell David A.²⁷,Davies Nick P.¹⁹,Gibson Andrew²⁸,Gorman Gráinne S.¹²,Hammans Simon²⁹,Jackson Andrew P.³⁰,Khan Aijaz³¹,Lane Russell³²,McConville John³³,McEntagart Meriel³⁴,Al-Memar Ali³⁴,Nixon John³⁵,Panicker Jay³⁶,Parton Matt²⁰,Petty Richard³⁷,Price Christopher J.³⁸,Rakowicz Wojtek³⁹,Ray Partha³⁶,Schapira Anthony H.⁴⁰,Swingler Robert⁴¹,Turner Chris²⁰²²,Wagner Kathryn R.⁴²,Maddison Paul⁴³,Shaw Pamela J.⁴⁴,Straub Volker¹,Bushby Kate¹,Lochmüller Hanns¹

Affiliation:

1. Institute of Genetic Medicine; International Centre for Life; Newcastle upon Tyne UK

2. NCST Diagnostic & Advisory Service for Rare Neuromuscular Diseases; Muscle Immunoanalysis Unit; Dental Hospital; Newcastle upon Tyne UK

3. Department of Neurology; West Wing, John Radcliffe Hospital; Oxford UK

4. Department of Neurology; Martin Luther University Halle-Wittenberg; Halle (Saale) Germany

5. Jain Foundation Inc; Bellevue Washington

6. School of Biological and Biomedical Sciences; University of Durham; Durham UK

7. Friedrich Baur Institute; Ludwig-Maximilians University; Munich Germany

8. Neuromuscular Reference Center; Saint-Luc University Hospitals; Catholic University of Louvain; Brussels Belgium

9. Department of Neurology; Neuromuscular Unit Hospital de la Santa Creu i Sant Pau; U.A.B. and CIBERNED Barcelona; Spain

10. Département de Neurologie; Centre de référence des Maladies Neuromusculaires; Centre Hospitalier Universitaire d'Angers; Angers France

11. Newcastle University Centre for Brain Ageing and Vitality; Newcastle University; Newcastle upon Tyne UK

12. Wellcome Trust Centre for Mitochondrial Research; Institute for Ageing and Health; Newcastle University; Newcastle upon Tyne UK

13. Deutsche Klinik für Diagnostik; Wiesbaden Germany

14. Neuropoint Patient Academy &; Myology Practice; Ulm Germany

15. Genetikum; Center for Genetic Diagnostics, Neu-Ulm; Germany

16. Morriston Hospital; Morriston Swansea UK

17. West of Scotland Regional Genetics Service; Southern General Hospital; Glasgow UK

18. Department of Neurology; King's College Hospital; London UK

19. Birmingham Muscle and Nerve Centre; Queen Elizabeth Hospital; Birmingham UK

20. MRC Centre for Neuromuscular Diseases; UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Queen Square; London UK

21. Dubowitz Neuromuscular Centre; UCL Institute of Child Health and Great Ormond Street Hospital; London UK

22. Department of Molecular Neuroscience; UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Queen Square; London UK

23. Department of Neurology; Salford Royal NHS Foundation Trust; Salford United Kingdom

24. Department of Clinical Medicine; University of Bergen and Department of Neurology; Haukeland University Hospital; Bergen Norway

25. Department of Neurology; Addenbrooke's Hospital; Cambridge UK

26. University of Manchester Rheumatic Diseases Centre; Salford Royal Foundation Trust; Salford UK

27. Department of Neurology; Frenchay Hospital; Bristol UK

28. Sheffield Teaching Hospitals NHS Foundation Trust; Sheffield UK

29. Wessex Neurological Centre; University Hospital of Southampton; Southampton UK

30. MRC Human Genetics Unit; MRC IGMM; University of Edinburgh; UK

31. Royal Hallamshire Hospital; Sheffield Teaching Hospitals; Sheffield UK

32. Division of Clinical Neurosciences; Imperial College London; UK

33. Belfast City Hospital; Belfast UK

34. St George's University Hospital; London UK

35. Department of Neurology; Royal Preston Hospital; Preston UK

36. The Walton Centre For Neurology And Neurosurgery; Liverpool UK

37. Department of Neurology; Southern General Hospital; Glasgow UK

38. Department of Neuroscience; Musgrove Park Hospital; Taunton Somerset UK

39. Department of Neurology; Charing Cross Hospital; Imperial College Healthcare NHS Trust; London UK

40. UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Queen Square; London UK

41. Department of Neurology; Hospital & Medical School; Dundee UK

42. Center for Genetic Muscle Disorders; The Kennedy Krieger Institute and the Departments of Neurology and Neuroscience; The Johns Hopkins School of Medicine Baltimore; USA

43. Nottingham University Hospitals; Nottingham UK

44. Academic Unit of Neurology; Department of Neuroscience; Sheffield Institute for Translational Neuroscience (SITraN); University of Sheffield; Sheffield UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22342/fullpdf

Reference14 articles.

1. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010

2. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene;Bouquet;Rev Neurol (Paris),2012

3. Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings;Deschauer;Nervenarzt,2011

4. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy;Hicks;Brain,2011

5. Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L;Little;Muscle Nerve,2013

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