References
Arndt V, Dick N, Tawo R, Dreiseidler M, Wenzel D, Hesse M, Furst DO, Saftig P, Saint R, Fleischmann BK et al (2010) Chaperone-assisted selective autophagy is essential for muscle maintenance. Curr Biol 20:143–148. doi:10.1016/j.cub.2009.11.022
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
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
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
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
Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, Chen B et al (2005) Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet 116:222–224. doi:10.1007/s00439-004-1218-3
Acknowledgements
We thank the families who participated in this study. This work was supported by the Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, University of Strasbourg, the France Génomique National infrastructure, funded as part of the Investissements d’Avenir program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09), and by Fondation Maladies Rares whithin the frame of the “Myocapture” sequencing project, AFM-16992 and CREGEMES for the MYOdiagHTS project, ANR-10-LABX-0030-INRT under the frame program Investissements d’Avenir ANR-10-IDEX-0002-02, Association Française contre les Myopathies (AFM-17088).
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Echaniz-Laguna, A., Lornage, X., Lannes, B. et al. HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. Acta Neuropathol 134, 163–165 (2017). https://doi.org/10.1007/s00401-017-1724-8
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DOI: https://doi.org/10.1007/s00401-017-1724-8