HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy-Reference-Cited by-同舟云学术

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

Published:2017-05-13 Issue:1 Volume:134 Page:163-165
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Echaniz-Laguna Andoni,Lornage Xavière,Lannes Béatrice,Schneider Raphaël,Bierry Guillaume,Dondaine Nicolas,Boland Anne,Deleuze Jean-François,Böhm Johann,Thompson Julie,Laporte Jocelyn,Biancalana Valérie

Funder

Agence Nationale de la Recherche

Fondation Maladies Rares

AFM-Téléthon

CREGEMES

Institut National de la Santé et de la Recherche Médicale

Centre National de la Recherche Scientifique

Université de Strasbourg

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/article/10.1007/s00401-017-1724-8/fulltext.html

Reference6 articles.

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2. Echaniz-Laguna A, Geuens T, Petiot P, Pereon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O et al (2017) Axonal neuropathies due to mutations in small heat shock proteins: clinical, genetic, and functional insights into novel mutations. Hum Mutat 38:556–568. doi: 10.1002/humu.23189

3. Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evila A, Hackman P, Jonson PH, Penttila S, Vihola A et al (2016) Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology 86:391–398. doi: 10.1212/WNL.0000000000002324

4. Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V et al (2004) Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 36:597–601. doi: 10.1038/ng1328

5. Nakhro K, Park JM, Kim YJ, Yoon BR, Yoo JH, Koo H, Choi BO, Chung KW (2013) A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot–Marie–Tooth disease type 2L. Neuromuscul Disord 23:656–663. doi: 10.1016/j.nmd.2013.05.009

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