{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:55:48Z","timestamp":1780624548768,"version":"3.54.1"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:p>Arthrogryposis multiplex congenita (<jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content>) is characterized by heterogeneous nonprogressive multiple joint contractures appearing at birth. We present a consanguineous Israeli\u2010Druze family with several members presenting with <jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content>. A variable intra\u2010familial phenotype and pected autosomal recessive inheritance prompted molecular diagnosis by whole\u2010exome sequencing. Variant analysis focused on rare homozygous changes, revealed a missense variant in <jats:italic><jats:styled-content style=\"fixed-case\">MYBPC1<\/jats:styled-content><\/jats:italic>, NM_002465:c.<jats:styled-content style=\"fixed-case\">556G<\/jats:styled-content>&gt;A (p.<jats:styled-content style=\"fixed-case\">E286K<\/jats:styled-content>), affecting the last nucleotide of Exon 8. This novel variant was not observed in the common variant databases and co\u2010segregated as expected within the extended family. <jats:italic><jats:styled-content style=\"fixed-case\">MYBPC1<\/jats:styled-content><\/jats:italic> encodes a slow skeletal muscle isoform, essential for muscle contraction. Heterozygous mutations in this gene are associated with distal arthrogryposis types 1b and 2, whereas a homozygous nonsense mutation is implicated in one family with lethal congenital contractural syndrome 4. We present a novel milder <jats:italic><jats:styled-content style=\"fixed-case\">MYBPC1<\/jats:styled-content><\/jats:italic> homozygous phenotype.<\/jats:p>","DOI":"10.1111\/cge.12707","type":"journal-article","created":{"date-parts":[[2015,12,10]],"date-time":"2015-12-10T09:35:53Z","timestamp":1449740153000},"page":"84-89","source":"Crossref","is-referenced-by-count":17,"title":["Expanding the <i>MYBPC1<\/i> phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita"],"prefix":"10.1111","volume":"90","author":[{"given":"N.","family":"Ekhilevitch","sequence":"first","affiliation":[{"name":"The Genetics Institute Rambam Health Care Campus  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Kurolap","sequence":"additional","affiliation":[{"name":"The Genetics Institute Rambam Health Care Campus  Haifa 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