{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T18:17:27Z","timestamp":1775845047626,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,4,10]],"date-time":"2003-04-10T00:00:00Z","timestamp":1049932800000},"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]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cyclic vomiting syndrome (CVS), characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a predominately childhood condition associated with migraine and dysautonomic features. Disease\u2010associated mitochondrial DNA (mtDNA) sequence variants are suggested by a strong maternal bias in the inheritance of migraine, and the recent findings of mtDNA variants in a few children with CVS and additional neuromuscular disease manifestations (\u201cCVS+\u201d). A clinical interview using a questionnaire was administered (generally) to one parent of 62 children with CVS+. Non\u2010senile disease manifestations, including migraine, myopathy, seizures, and dysautonomia\u2010like symptoms, were far more common in matrilineal versus non\u2010matrilineal relatives, including being present in 75% of the mothers versus in only 11% of the fathers (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). Overall, maternal inheritance is suggested in 86% of the families (in 65% strongly so). Disease manifestations in subjects and their affected matrilineal relatives are predominately intermittent and consistent with dysautonomia, including increased vital sign fluctuations. Body fluid metabolites and muscle biopsy findings are consistent with mitochondrial dysfunction in most cases tested. We conclude that mtDNA sequence variants are at least risk factors in the development of disease in most children at this \u201csevere\u201d end of the CVS spectrum, likely involving a maternally inherited propensity towards dysautonomia. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20126","type":"journal-article","created":{"date-parts":[[2003,7,23]],"date-time":"2003-07-23T10:12:06Z","timestamp":1058955126000},"page":"474-482","source":"Crossref","is-referenced-by-count":47,"title":["Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease"],"prefix":"10.1002","volume":"120A","author":[{"given":"Richard 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