{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T18:33:10Z","timestamp":1792002790597,"version":"4.4.0"},"reference-count":77,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:00:00Z","timestamp":1764115200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100003582","name":"AIM","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003582","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010135","name":"Finska L\u00e4kares\u00e4llskapet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010135","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015736","name":"Folkh\u00e4lsan Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015736","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004012","name":"Jane and Aatos Erkko Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004012","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The small heat shock protein HSPB6 (a.k.a. Hsp20) is highly expressed in striated and smooth muscles. It modulates the oligomerization of its paralogs HSPB1 and CRYAB (HSPB5) and is involved e.g. in cytoskeletal regulation and autophagy. While HSPB6 variants have been implicated in cardiomyopathy, they have not been previously linked to neuromuscular disease. We report here a patient with late-onset myopathy and cataract, carrying in cis the novel HSPB6 variant c.464delC and the common polymorphism c.488G\u2009&amp;gt;\u2009C, together resulting in the extended protein p.Pro155Argfs*25;p.Gly163Arg. The family history was consistent with dominant inheritance. The mutant protein showed decreased solubility due to phase separation propensity, and caused mislocalization of CRYAB and BAG3, and a decrease of HSPB1 in transfected cells. The patient\u2019s muscle biopsy showed rimmed vacuoles and, in line with the functional studies, accumulation of HSPB6 and its interaction partners. The identified HSPB6 variants are most likely the cause of the muscle disease in this family, thus identifying HSPB6 mutations as a novel cause of vacuolar myopathy. Other reported HSPB6 variants causing a late frameshift or extension may cause disease in a similar fashion.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf175","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T13:07:06Z","timestamp":1763125626000},"source":"Crossref","is-referenced-by-count":2,"title":["C-terminal extension of HSPB6 in a family with myopathy and cataract"],"prefix":"10.1093","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5497-5255","authenticated-orcid":false,"given":"Jaakko","family":"Sarparanta","sequence":"first","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Medicum, University of Helsinki , Biomedicum Helsinki, Haartmaninkatu 8, FI-00290 Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2423-359X","authenticated-orcid":false,"given":"Per 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Neuromusculaires, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Universit\u00e9, APHP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , 47-83 boulevard de l'H\u00f4pital, F-75651 Paris Cedex 13 ,","place":["France"]},{"name":"Centre de Recherche en Myologie, GH Piti\u00e9-Salp\u00eatri\u00e8re, Sorbonne Universit\u00e9-Inserm UMRS974 , 47-83 boulevard de l'H\u00f4pital, F-75651 Paris Cedex 13 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8670-744X","authenticated-orcid":false,"given":"Veronica","family":"Sian","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Medicum, University of Helsinki , Biomedicum Helsinki, Haartmaninkatu 8, FI-00290 Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Walder","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Medicum, University of Helsinki , Biomedicum Helsinki, Haartmaninkatu 8, FI-00290 Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiina","family":"Suominen","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center, Tampere University Hospital and Fimlab Laboratories , Teiskontie 35, FI-33520 Tampere ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7890-5713","authenticated-orcid":false,"given":"Peter","family":"Hackman","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Medicum, University of Helsinki , Biomedicum Helsinki, Haartmaninkatu 8, FI-00290 Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7714-0069","authenticated-orcid":false,"given":"Norma 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Piti\u00e9-Salp\u00eatri\u00e8re, Sorbonne Universit\u00e9-Inserm UMRS974 , 47-83 boulevard de l'H\u00f4pital, F-75651 Paris Cedex 13 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1101-9730","authenticated-orcid":false,"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Medicum, University of Helsinki , Biomedicum Helsinki, Haartmaninkatu 8, FI-00290 Helsinki ,","place":["Finland"]},{"name":"Neuromuscular Research Center, Tampere University Hospital and Fimlab Laboratories , Teiskontie 35, FI-33520 Tampere ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,11,26]]},"reference":[{"key":"2026051101323924200_ref1","volume-title":"The Big Book on Small Heat Shock 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