Novel CAPN3 variant associated with an autosomal dominant calpainopathy-Reference-Cited by-同舟云学术

Novel CAPN3 variant associated with an autosomal dominant calpainopathy

Published:2020-06-10 Issue:6 Volume:46 Page:564-578
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathol. Appl. Neurobiol.

Author:

Cerino M.¹²³^ORCID,Campana‐Salort E.¹⁴,Salvi A.¹,Cintas P.⁵^ORCID,Renard D.⁶,Juntas Morales R.⁷⁸,Tard C.⁹¹⁰^ORCID,Leturcq F.¹¹,Stojkovic T.¹²^ORCID,Bonello‐Palot N.¹²^ORCID,Gorokhova S.¹²^ORCID,Mortreux J.¹²^ORCID,Maues De Paula A.¹¹³,Lévy N.¹²,Pouget J.⁴,Cossée M.⁷¹⁴^ORCID,Bartoli M.¹^ORCID,Krahn M.¹²,Attarian S.¹⁴^ORCID

Affiliation:

1. Aix Marseille Univ Inserm, U1251-MMG, Marseille Medical Genetics Marseille France

2. APHM, Hôpital Timone Enfants Département de Génétique Médicale Marseille France

3. APHM, Laboratoire de Biochimie Hôpital de la Conception Marseille France

4. APHM, centre de référence des maladies neuromusculaires et de la SLA CHU La Timone Marseille France

5. Centre de référence de pathologie neuromusculaires Hôpital Purpan CHU de Toulouse Toulouse France

6. Service de Neurologie CHU de Nîmes, Univ. Montpellier Nîmes France

7. Laboratoire de Génétique de Maladies Rares Université de Montpellier Montpellier France

8. Service de Neurologie CHU de Montpellier Montpellier France

9. U1172, Service de Neurologie CHU de Lille Lille France

10. Centre de référence des maladies neuromusculaires Nord/Est/Ile de France ParisFrance

11. APHP, Laboratoire de génétique et biologie moléculaires HUPC Cochin ParisFrance

12. APHP, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France Hôpital Pitié‐Salpêtrière ParisFrance

13. APHM, Service d’anatomie pathologique et de neuropathologie CHU La Timone MarseilleFrance

14. Laboratoire de Génétique moléculaire CHRU Montpellier Montpellier France

Funder

AFM-Téléthon

Agence Nationale de la Recherche

FP7 Coordination of Non-Community Research Programmes

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12624

Reference41 articles.

1. Calpains and Disease

2. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

3. The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)

4. Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A

5. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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