{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T15:11:06Z","timestamp":1778512266350,"version":"3.51.4"},"reference-count":34,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T00:00:00Z","timestamp":1614124800000},"content-version":"am","delay-in-days":420,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004012","name":"Jane ja Aatos Erkon S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004012","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K24AR073317"],"award-info":[{"award-number":["K24AR073317"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AR068797"],"award-info":[{"award-number":["R01AR068797"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI14\/00738"],"award-info":[{"award-number":["PI14\/00738"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008723","name":"Suomen L\u00e4\u00e4ketieteen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","award":["29-4"],"award-info":[{"award-number":["29-4"]}],"id":[{"id":"10.13039\/100008723","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP17ek0109285h0001"],"award-info":[{"award-number":["JP17ek0109285h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP17kk0205001s0202"],"award-info":[{"award-number":["JP17kk0205001s0202"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009438","name":"National Center of Neurology and Psychiatry","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009438","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015736","name":"Folkh\u00e4lsanin Tutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015736","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2020,1]]},"DOI":"10.1016\/j.nmd.2019.11.005","type":"journal-article","created":{"date-parts":[[2019,11,19]],"date-time":"2019-11-19T11:47:23Z","timestamp":1574164043000},"page":"38-46","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Mutations in the J domain of DNAJB6 cause dominant distal myopathy"],"prefix":"10.1016","volume":"30","author":[{"given":"Johanna","family":"Palmio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2423-359X","authenticated-orcid":false,"given":"Per Harald","family":"Jonson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2757-3266","authenticated-orcid":false,"given":"Michio","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaakko","family":"Sarparanta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rocio","family":"Bengoechea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Savarese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Vihola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manu","family":"Jokela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Montse","family":"Oliv\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Masingue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9051-4168","authenticated-orcid":false,"given":"Emilia","family":"Kerty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Hackman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conrad C.","family":"Weihl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9452-112X","authenticated-orcid":false,"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2019.11.005_bib0001","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1038\/ng.1103","article-title":"Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy","volume":"44","author":"Sarparanta","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2019.11.005_bib0002","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/ana.22683","article-title":"Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy","volume":"71","author":"Harms","year":"2012","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2019.11.005_bib0003","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.nmd.2012.12.010","article-title":"DNAJB6 myopathy in an Asian cohort and cytoplasmic\/nuclear inclusions","volume":"23","author":"Sato","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2019.11.005_bib0004","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/mus.24106","article-title":"DNAJB6 myopathy: a vacuolar myopathy with childhood onset","volume":"49","author":"Suarez-Cedeno","year":"2014","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2019.11.005_bib0005","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/j.nmd.2015.07.014","article-title":"Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease","volume":"25","author":"Palmio","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2019.11.005_bib0006","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s40478-015-0224-0","article-title":"Complete loss of the DNAJB6 G\/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy","volume":"3","author":"Ruggieri","year":"2015","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.nmd.2019.11.005_bib0007","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/j.nmd.2015.08.002","article-title":"A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype","volume":"25","author":"Nam","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2019.11.005_bib0008","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s40246-016-0089-8","article-title":"A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies","volume":"10","author":"Monies","year":"2016","journal-title":"Hum Genom"},{"key":"10.1016\/j.nmd.2019.11.005_bib0009","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1111\/ene.13598","article-title":"Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families","volume":"25","author":"Jonson","year":"2018","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.nmd.2019.11.005_bib0010","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1002\/acn3.649","article-title":"Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients","volume":"5","author":"Nallamilli","year":"2018","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.nmd.2019.11.005_bib0011","first-page":"221","article-title":"LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation","volume":"37","author":"Bohlega","year":"2018","journal-title":"Acta Myol"},{"key":"10.1016\/j.nmd.2019.11.005_bib0012","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/cge.13001","article-title":"A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function","volume":"92","author":"Tsai","year":"2017","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2019.11.005_bib0013","doi-asserted-by":"crossref","first-page":"698","DOI":"10.3349\/ymj.2018.59.5.698","article-title":"Two Korean families with limb-girdle muscular dystrophy type 1D associated with DNAJB6 mutations","volume":"59","author":"Kim","year":"2018","journal-title":"Yonsei Med J"},{"key":"10.1016\/j.nmd.2019.11.005_bib0014","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s40478-016-0276-9","article-title":"Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D","volume":"4","author":"Sandell","year":"2016","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.nmd.2019.11.005_bib0015","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/nrm2941","article-title":"The HSP70 chaperone machinery: J proteins as drivers of functional specificity","volume":"11","author":"Kampinga","year":"2010","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.nmd.2019.11.005_bib0016","doi-asserted-by":"crossref","first-page":"34521","DOI":"10.1074\/jbc.M003492200","article-title":"Identification of MRJ, a DNAJ\/HSP40 family protein, as a keratin 8\/18 filament regulatory protein","volume":"275","author":"Izawa","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2019.11.005_bib0017","doi-asserted-by":"crossref","first-page":"19831","DOI":"10.1074\/jbc.M109613200","article-title":"Characterization of a brain-enriched chaperone, MRJ, that inhibits huntingtin aggregation and toxicity independently","volume":"277","author":"Chuang","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2019.11.005_bib0018","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.molcel.2010.01.001","article-title":"A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation","volume":"37","author":"Hageman","year":"2010","journal-title":"Mol Cell"},{"key":"10.1016\/j.nmd.2019.11.005_bib0019","doi-asserted-by":"crossref","first-page":"21120","DOI":"10.1074\/jbc.M114.572461","article-title":"Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers","volume":"289","author":"Stein","year":"2014","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2019.11.005_bib0020","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.nmd.2015.10.003","article-title":"Targeted next-generation sequencing assay for detection of mutations in primary myopathies","volume":"26","author":"Evil\u00e4","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2019.11.005_bib0021","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1136\/jmedgenet-2016-104073","article-title":"Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders","volume":"54","author":"Nishikawa","year":"2017","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2019.11.005_bib0022","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1471-2105-9-40","article-title":"I-TASSER server for protein 3D structure prediction","volume":"9","author":"Zhang","year":"2008","journal-title":"BMC Bioinform"},{"key":"10.1016\/j.nmd.2019.11.005_bib0023","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: a unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat Protoc"},{"key":"10.1016\/j.nmd.2019.11.005_bib0024","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/nmeth.3213","article-title":"The I-TASSER suite: protein structure and function prediction","volume":"12","author":"Yang","year":"2015","journal-title":"Nat Methods"},{"key":"10.1016\/j.nmd.2019.11.005_bib0025","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","article-title":"SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling","volume":"18","author":"Guex","year":"1997","journal-title":"Electrophoresis"},{"key":"10.1016\/j.nmd.2019.11.005_bib0026","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/jgm.378","article-title":"Antisense downregulation of mutant huntingtin in a cell model","volume":"5","author":"Hasholt","year":"2003","journal-title":"J Gene Med"},{"key":"10.1016\/j.nmd.2019.11.005_bib0027","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/hmg\/ddt408","article-title":"Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40\/70 chaperones","volume":"23","author":"Udan-Johns","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2019.11.005_bib0028","doi-asserted-by":"crossref","first-page":"6588","DOI":"10.1093\/hmg\/ddv363","article-title":"Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D","volume":"24","author":"Bengoechea","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2019.11.005_bib0029","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/s40478-014-0100-3","article-title":"MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples","volume":"2","author":"Savarese","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.nmd.2019.11.005_bib0030","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1006\/jmbi.1999.2844","article-title":"Investigation of the interaction between DNAK and DNAJ by surface plasmon resonance spectroscopy","volume":"289","author":"Mayer","year":"1999","journal-title":"J Mol Biol"},{"key":"10.1016\/j.nmd.2019.11.005_bib0031","doi-asserted-by":"crossref","first-page":"34830","DOI":"10.1038\/srep34830","article-title":"Versatile members of the DNAJ family show Hsp70 dependent anti-aggregation activity on RING1 mutant Parkin C289G","volume":"6","author":"Kakkar","year":"2016","journal-title":"Sci Rep"},{"key":"10.1016\/j.nmd.2019.11.005_bib0032","doi-asserted-by":"crossref","first-page":"e88797","DOI":"10.1172\/jci.insight.88797","article-title":"A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene","volume":"1","author":"Ding","year":"2016","journal-title":"JCI Insight"},{"key":"10.1016\/j.nmd.2019.11.005_bib0033","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2019.11.005_bib0034","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896619312015?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896619312015?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:08:34Z","timestamp":1760774914000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896619312015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["S0960896619312015"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2019.11.005","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in the J domain of DNAJB6 cause dominant distal myopathy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2019.11.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}