{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T21:07:14Z","timestamp":1776287234332,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,1,31]],"date-time":"2002-01-31T00:00:00Z","timestamp":1012435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2002,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Facioscapulohumeral muscular dystrophy (FSHD) is associated with the deletion of a variable number of 3.3\u2010kb subunits of a tandemly arranged repeat (D4Z4) on chromosome 4q35. <jats:italic>Eco<\/jats:italic>RI\/<jats:italic>Bln<\/jats:italic>I fragments in the range of 10\u201335 kb are currently defined as disease\u2010associated. Diagnosis of FSHD is frequently complicated by interchromosomal exchange with a homologous locus on 10q26. We present clinical and laboratory data of six subjects from two unrelated families with a marked FSHD phenotype and <jats:italic>Eco<\/jats:italic>RI\/<jats:italic>Bln<\/jats:italic>I fragments of 39 and 33 kb, respectively. Origin on chromosome 4q35 was confirmed by haplotype analysis in the first family and was supported by pulsed field gel electrophoresis data in the second family. Our data further confirm the existence of a region of overlap of normal and pathological fragments. Fragments from this region can obviously be associated with marked FSHD phenotypes. Furthermore, application of linked markers and resolution of all <jats:italic>Eco<\/jats:italic>RI\/<jats:italic>Bln<\/jats:italic>I fragments by pulsed field gel electrophoresis in addition to routine laboratory tests considerably augments the information obtained from molecular tests, upon which genetic counselling can then be based. \u00a9 2002 Wiley Periodicals, Inc. Muscle Nerve 25: 000\u2013000, 2002<\/jats:p>","DOI":"10.1002\/mus.10070","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:15:07Z","timestamp":1030317307000},"page":"540-548","source":"Crossref","is-referenced-by-count":11,"title":["Facioscapulohumeral muscular dystrophy with <i>Eco<\/i>RI\/<i>Bln<\/i>I fragment size of more than 32 kb"],"prefix":"10.1002","volume":"25","author":[{"given":"Stefan","family":"Vielhaber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sibylle","family":"Jakubiczka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. 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