Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families-Reference-Cited by-同舟云学术

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

Published:2018-03-30 Issue:5 Volume:25 Page:790-794
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Jonson P. H.¹^ORCID,Palmio J.²,Johari M.¹^ORCID,Penttilä S.²,Evilä A.¹,Nelson I.³,Bonne G.³,Wiart N.⁴,Meyer V.⁴,Boland A.⁴,Deleuze J.-F.⁴,Masson C.⁵,Stojkovic T.³,Chapon F.⁶,Romero N. B.⁷,Solé G.⁸,Ferrer X.⁸,Ferreiro A.⁹¹⁰,Hackman P.¹,Richard I.¹¹,Udd B.¹²¹²

Affiliation:

1. Folkhälsan Institute of Genetics; University of Helsinki, Medicum; Helsinki Finland

2. Neuromuscular Research Center; Tampere University Hospital; University of Tampere; Tampere Finland

3. UPMC Univ Paris 06; INSERM UMRS 974; Center of Research in Myology; Institut de Myologie; Sorbonne Universités; Paris France

4. Centre National de Recherche en Génomique Humaine (CNRGH); CEA; Evry France

5. Bioinformatics Core Facility; INSERM US24/CNRS UMS3633; INSERM UMR 1163; Institut Imagine; Université Paris Descartes − Structure Fédérative de Recherche Necker; Paris France

6. INSERM U1075; Neuromuscular Competence Center; CHU Caen; Université de Normandie; Caen France

7. Unit of Neuromuscular Morphology; Institute of Myology; UPMC Paris 6; INSERM UMRS 974; Pitié-Salpêtrière Hospital; Paris France

8. Neuromuscular Reference Center; CHU Bordeaux; Bordeaux France

9. Unité de Biologie Fonctionnelle et Adaptative; Université Paris Diderot/CNRS; Paris France

10. Reference Center for Neuromuscular Disorders; Pitié-Salpêtrière Hospital; AP-HP; Paris France

11. Généthon INSERM; U951; INTEGRARE Research Unit; University Paris-Saclay; Evry France

12. Department of Neurology; Vaasa Central Hospital; Vaasa Finland

Funder

Agence Nationale pour la Recherche

Fondation Maladies Rares

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13598/fullpdf

Reference25 articles.

1. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy;Sarparanta;Nat Genet,2012

2. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy;Harms;Ann Neurol,2012

3. Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease;Palmio;Neuromuscul Disord,2015

4. Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy;Ruggieri;Acta Neuropathol Commun,2015

5. A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype;Nam;Neuromuscul Disord,2015

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