{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:45:39Z","timestamp":1791283539212,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"9-10","license":[{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2006,10]]},"DOI":"10.1016\/j.nmd.2006.06.008","type":"journal-article","created":{"date-parts":[[2006,8,25]],"date-time":"2006-08-25T11:50:19Z","timestamp":1156506619000},"page":"553-558","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":96,"title":["Severe phenotype in infantile facioscapulohumeral muscular dystrophy"],"prefix":"10.1016","volume":"16","author":[{"given":"Lars","family":"Klinge","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Eagle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene D.","family":"Haggerty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine E.","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate M.","family":"Bushby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2006.06.008_bib1","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/ana.410430303","article-title":"Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis","volume":"432","author":"Tawil","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2006.06.008_bib2","series-title":"Myology","author":"Engel","year":"2004"},{"key":"10.1016\/j.nmd.2006.06.008_bib3","series-title":"A clinician\u2019s view of neuromuscular diseases","author":"Brooke","year":"1977"},{"key":"10.1016\/j.nmd.2006.06.008_bib4","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1001\/archneur.1994.00540160085011","article-title":"Facioscapulohumeral muscular dystrophy in early childhood","volume":"51","author":"Brouwer","year":"1994","journal-title":"Arch Neruol"},{"key":"10.1016\/j.nmd.2006.06.008_bib5","unstructured":"Padberg GW. Facioscapulohumeral muscular dystrophy: a clinician\u2019s experience. In: Upadhyaya M, Cooper DN (eds) Facioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology. New York: Garland Science, 2004; pp 41-54."},{"key":"10.1016\/j.nmd.2006.06.008_bib6","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.1212\/WNL.41.12.1878","article-title":"Hearing loss in facioscapulohumeral muscular dystrophy","volume":"41","author":"Brouwer","year":"1991","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2006.06.008_bib7","series-title":"Facioscapulohumeral disease","author":"Padberg","year":"1982"},{"key":"10.1016\/j.nmd.2006.06.008_bib8","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1093\/hmg\/4.5.951","article-title":"Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)","volume":"4","author":"Lunt","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2006.06.008_bib9","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/(SICI)1096-8628(19980501)77:2<155::AID-AJMG9>3.0.CO;2-R","article-title":"The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females","volume":"77","author":"Zatz","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2006.06.008_bib10","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/ng0992-26","article-title":"Chromosome 4q DNA rearrangements associated with facioscapulohumeral dystrophy","volume":"2","author":"Wijmenga","year":"1992","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2006.06.008_bib11","series-title":"Neuromuscular disorders, clinical and molecular genetics","article-title":"Facioscapulohumeral muscular dystrophy","author":"Padberg","year":"1998"},{"key":"10.1016\/j.nmd.2006.06.008_bib12","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1086\/428361","article-title":"The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy","volume":"76","author":"Van der","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2006.06.008_bib13","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1007\/s00018-003-3285-3","article-title":"Molecular basis of facioscapulohumeral muscular dystrophy","volume":"61","author":"Tupler","year":"2004","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.nmd.2006.06.008_bib14","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1212\/WNL.61.7.909","article-title":"Possible phenotypic dosage effect in patients compound heterozyous for FSHD-sized 4q35 alleles","volume":"61","author":"Wohlgemuth","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2006.06.008_bib15","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1136\/jmg.33.5.361","article-title":"Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)","volume":"33","author":"Deidda","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2006.06.008_bib16","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1002\/ana.10057","article-title":"Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis","volume":"50","author":"Lemmers","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2006.06.008_bib17","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1006\/geno.2002.6690","article-title":"Genomic analysis of human chromosome 10q and 4q telomeres suggest a common origin","volume":"79","author":"van Geel","year":"2002","journal-title":"Genomics"},{"key":"10.1016\/j.nmd.2006.06.008_bib18","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1086\/426035","article-title":"Contractions of D4Z4 on 4qB do not cause facioscapulohumeral muscular dystrophy","volume":"75","author":"Lemmers","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2006.06.008_bib19","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1136\/jmg.33.1.29","article-title":"Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases","volume":"33","author":"Bakker","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2006.06.008_bib20","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1136\/adc.71.3.221","article-title":"De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1)","volume":"71","author":"Jardine","year":"1994","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.nmd.2006.06.008_bib21","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1086\/302730","article-title":"De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10","volume":"66","author":"van der Maarel","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.nmd.2006.06.008_bib22","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1007\/s004390050244","article-title":"Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD 1A) occurring predominantly in oogenesis","volume":"98","author":"Kohler","year":"1996","journal-title":"Hum Genet"},{"key":"10.1016\/j.nmd.2006.06.008_bib23","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1111\/j.1600-0404.1986.tb04625.x","article-title":"Infantile facioscapulohumeral muscular dystrophy: new observations","volume":"74","author":"Bailey","year":"1986","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.nmd.2006.06.008_bib24","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1600-0404.1983.tb04817.x","article-title":"Death in childhood due to facioscapulohumeral muscular dystrophy","volume":"68","author":"McGarry","year":"1983","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.nmd.2006.06.008_bib25","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1212\/01.WNL.0000133126.86377.E8","article-title":"Ventilatory support in facioscapulohumeral muscular dystrophy","volume":"63","author":"Wohlgemuth","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2006.06.008_bib26","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1183\/09031936.03.00028103","article-title":"Face mask spirometry and respiratory pressures in normal subjects","volume":"22","author":"Wohlgemuth","year":"2003","journal-title":"Eur Respir J"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896606004366?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896606004366?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:54:36Z","timestamp":1760774076000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896606004366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10]]},"references-count":26,"journal-issue":{"issue":"9-10","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["S0960896606004366"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2006.06.008","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2006,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Severe phenotype in infantile facioscapulohumeral muscular dystrophy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2006.06.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}