{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T05:13:46Z","timestamp":1761196426407},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,4,9]],"date-time":"2003-04-09T00:00:00Z","timestamp":1049846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal dominant myoclonus\u2010dystonia syndrome (MDS) is characterized by myoclonic and\/or dystonic movements with onset as early as infancy. In most families, MDS is caused by mutations in the gene <jats:italic>SGCE<\/jats:italic>, which encodes \u03b5\u2010sarcoglycan and is located on chromosome 7q21. Data from several sources, including multi\u2010generation pedigrees revealing parent\u2010of\u2010origin effects on MDS penetrance, suggest that <jats:italic>SGCE<\/jats:italic> is maternally imprinted. We present a 32\u2010month\u2010old patient with an interstitial deletion affecting chromosome 7q21, and a phenotype including myoclonus, microcephaly, short stature, dysmorphic face and language delay. We used fluorescence in situ hybridization (FISH) to estimate the size of our patient's deletion (9.0\u201315 Mbp) and to confirm absence of <jats:italic>SGCE<\/jats:italic> on the affected chromosome. Polymerase chain reaction (PCR) analysis of polymorphic markers in the region revealed that the paternally inherited chromosome contained the deletion, consistent with a model of maternal <jats:italic>SGCE<\/jats:italic> imprinting. Our patient is the first case of MDS caused by complete deletion of <jats:italic>SGCE<\/jats:italic>, and represents a new contiguous gene disorder. The case underscores the need to consider chromosomal deletions in patients whose phenotypes are more complex than the classic presentation of a known disease. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20162","type":"journal-article","created":{"date-parts":[[2003,7,31]],"date-time":"2003-07-31T10:15:55Z","timestamp":1059646555000},"page":"31-36","source":"Crossref","is-referenced-by-count":26,"title":["Myoclonus in a patient with a deletion of the \u03b5\u2010sarcoglycan locus on chromosome 7q21"],"prefix":"10.1002","volume":"121A","author":[{"given":"Ralph 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