Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families-Reference-Cited by-同舟云学术

Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

Published:2020-09-28 Issue:2 Volume:47 Page:283-296
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathol. Appl. Neurobiol.

Author:

González‐Mera L.¹²,Ravenscroft G.³,Cabrera‐Serrano M.³⁴⁵⁶,Ermolova N.⁷,Domínguez‐González C.⁸,Arteche‐López A.⁹,Soltanzadeh P.¹⁰,Evesson F.¹¹¹²,Navas C.¹,Mavillard F.⁵⁶,Clayton J.³,Rodrigo P.¹²,Servián‐Morilla E.⁴⁵⁶,Cooper S. T¹¹¹²¹³,Waddell L.¹¹¹³,Reardon K.¹⁴,Corbett A.¹⁵,Hernandez‐Laín A.¹⁶^ORCID,Sanchez A.¹⁷,Esteban Perez J.⁸,Paradas‐Lopez C.⁴⁵⁶,Rivas‐Infante E.⁶¹⁸,Spencer M.¹⁹,Laing N.³,Olivé M.¹²^ORCID

Affiliation:

1. Neuropathology Unit Department of Pathology IDIBELL‐Hospital Universitari de BellvitgeHospitalet de Llobregat BarcelonaSpain

2. Neuromuscular Unit Department of Neurology IDIBELL‐Hospital Universitari de BellvitgeHospitalet de Llobregat Barcelona Spain

3. Centre for Medical Research University of Western AustraliaHarry Perkins Institute of Medical Research Perth WA Australia

4. Neurology Department Hospital Universitario Virgen del Rocío SevilleSpain

5. Instituto de Biomedicina de Sevilla (IBiS)Hospital Universitario Virgen del Rocıo/CSICUniversidad de Sevilla SevillaSpain

6. Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED) Madrid Spain

7. Department of Physiology David Geffen School of Medicine at UCLA Los Angeles CA USA

8. Neuromuscular Unit Department of Neurology Hospital Universitario 12 de OctubreResearch Institute imas12Biomedical Network Research Centre on Rare Diseases (CIBERER)Instituto de Salud Carlos III MadridSpain

9. Department of Genetic Hospital Universitario 12 de Octubre Madrid Spain

10. Departments of Neurology and Physiology David Geffen School of Medicine UCLAUniversity of California Los Angeles CA USA

11. Kids Neuroscience Centre Kids ResearchChildren’s Hospital at Westmead Westmead NSWAustralia

12. The Children’s Medical Research Institute Westmead NSWAustralia

13. Discipline of Child and Adolescent Health Faculty of Health and Medicine University of Sydney Westmead NSW Australia

14. St. Vincent’s Melbourne Neuromuscular Diagnostic Laboratory Department of Clinical Neurosciences and Neurological Research St Vincent’s Hospital Melbourne VIC Australia

15. Department of Neurology Concord General Repatriation Hospital Sydney NSW Australia

16. Department of Pathology Neuropathology Unit. Hospital Universitario 12 de Octubre MadridSpain

17. Institut de Diagnòstic per la imatge (IDI) IDIBELL‐Hospital de BellvitgeHospitalet de Llobregat BarcelonaSpain

18. Department of Neuropathology Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS) Sevilla Spain

19. Department of Neurology Neuromuscular ProgramDavid Geffen School of Medicine at UCLA Los Angeles CA USA

Publisher

Wiley

Subject

Physiology (medical),Clinical Neurology,Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12663

Reference44 articles.

1. Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and μ-types

2. Calpains — An elaborate proteolytic system

3. Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

4. Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro

5. Limb-girdle muscular dystrophy 2A

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