{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:17:04Z","timestamp":1760782624215},"reference-count":16,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Clinical Neuroscience"],"published-print":{"date-parts":[[2004,8]]},"DOI":"10.1016\/j.jocn.2003.09.014","type":"journal-article","created":{"date-parts":[[2004,7,8]],"date-time":"2004-07-08T06:42:27Z","timestamp":1089268947000},"page":"603-605","source":"Crossref","is-referenced-by-count":8,"title":["Clinical and genetic analysis of a family with PROMM"],"prefix":"10.1016","volume":"11","author":[{"given":"Raji P","family":"Grewal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanxiang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Krahe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jocn.2003.09.014_BIB1","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/BF00273655","article-title":"Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q","volume":"80","author":"Johnson","year":"1988","journal-title":"Hum. Genet."},{"key":"10.1016\/j.jocn.2003.09.014_BIB2","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular basis of myotonic dystrophy: expansion of a trinucleotide repeat (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"10.1016\/j.jocn.2003.09.014_BIB3","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ana.410350305","article-title":"Myotonic dystrophy with no trinucleotide repeat expansion","volume":"35","author":"Thornton","year":"1994","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jocn.2003.09.014_BIB4","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1007\/BF00873977","article-title":"Myotonic dystrophy phenotype with expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?","volume":"243","author":"Abbruzzese","year":"1994","journal-title":"J. Neurol."},{"key":"10.1016\/j.jocn.2003.09.014_BIB5","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1038\/570","article-title":"Genetic mapping of a second myotonic dystrophy locus","volume":"19","author":"Ranum","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jocn.2003.09.014_BIB6","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1212\/WNL.52.1.170","article-title":"Linkage of proximal myotonic myopathy to chromosome 3q","volume":"52","author":"Ricker","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.jocn.2003.09.014_BIB7","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1126\/science.1062125","article-title":"Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9","volume":"293","author":"Liquori","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.jocn.2003.09.014_BIB8","doi-asserted-by":"crossref","unstructured":"Moxley RT III, Udd B, Ricker K. 54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other Proximal Myotonic Syndromes, Naarden, The Netherlands, 10\u201312 October 1997. Neuromusc Disord 1998; 8: 508\u2013518","DOI":"10.1016\/S0960-8966(98)00068-6"},{"issue":"5","key":"10.1016\/j.jocn.2003.09.014_BIB9","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1097\/00019052-200010000-00003","article-title":"Myotonic dystrophies","volume":"13","author":"Meola","year":"2000","journal-title":"Curr. Opin. Neurol."},{"issue":"4","key":"10.1016\/j.jocn.2003.09.014_BIB10","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S0960-8966(97)00041-2","article-title":"Proximal myotonic dystrophy \u2013 a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?","volume":"7","author":"Udd","year":"1997","journal-title":"Neuromuscul. Disord."},{"issue":"2","key":"10.1016\/j.jocn.2003.09.014_BIB11","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0022-510X(01)00649-9","article-title":"Proximal myotonic myopathy: a syndrome with a favourable prognosis?","volume":"193","author":"Meola","year":"2002","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.jocn.2003.09.014_BIB12","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/S0960-8966(98)00054-6","article-title":"PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness","volume":"8","author":"Phillips","year":"1998","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.jocn.2003.09.014_BIB13","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1212\/01.WNL.0000054481.84978.F9","article-title":"Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum","volume":"60","author":"Day","year":"2003","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.jocn.2003.09.014_BIB14","first-page":"209","article-title":"PROMM: clinical and histology study","volume":"157","author":"Bassez","year":"2001","journal-title":"Rev. Neurol."},{"key":"10.1016\/j.jocn.2003.09.014_BIB15","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1212\/WNL.47.4.956","article-title":"Heat-sensitive myotonia in proximal myotonic myopathy","volume":"47","author":"Sander","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.jocn.2003.09.014_BIB16","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/(SICI)1097-4598(199702)20:2<235::AID-MUS17>3.0.CO;2-1","article-title":"The exercise test distinguishes proximal myotonic myopathy from myotonic dystrophy","volume":"20","author":"Sander","year":"1997","journal-title":"Muscle Nerve"}],"container-title":["Journal of Clinical Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0967586804001213?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0967586804001213?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,6]],"date-time":"2019-02-06T03:20:56Z","timestamp":1549423256000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0967586804001213"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,8]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,8]]}},"alternative-id":["S0967586804001213"],"URL":"https:\/\/doi.org\/10.1016\/j.jocn.2003.09.014","relation":{},"ISSN":["0967-5868"],"issn-type":[{"value":"0967-5868","type":"print"}],"subject":[],"published":{"date-parts":[[2004,8]]}}}