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European Journal of Pediatrics
Published in: European Journal of Pediatrics 10/2003

01-10-2003 | Short Report

A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting

Authors: Carmelo Damiano Salpietro, Silvana Briuglia, Maria Valeria Merlino, Chiara Di Bella, Luciana Rigoli

Published in: European Journal of Pediatrics | Issue 10/2003

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Excerpt

We report the incidence of mitochondrial DNA (mtDNA) mutations and/or deletions in a family from Southern Italy in which four members were affected by a cyclic vomiting syndrome (CVS). The A3243G mtDNA mutation was detected in a boy, his mother, maternal grandmother, and aunt but not in other relatives of the family. …
Literature
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Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457–465PubMed
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Boles RG, Williams JC (1999) Mitochondrial disease and cyclic vomiting syndrome. Dig Dis Sci 44 (Suppl 8): 103S–107SPubMed
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Boles RG, Chun N, Senadheera D, Wong L-JC (1997) Cyclical vomiting syndrome and mitochondrial DNA mutations. Lancet 350: 1299–1300PubMed
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Bu Li, Balint JP (2000) Cyclic vomiting syndrome: evolution in our understanding of a brain-gut disorder. Adv Pediatr 47: 117–160PubMed
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Metadata
Title
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting
Authors
Carmelo Damiano Salpietro
Silvana Briuglia
Maria Valeria Merlino
Chiara Di Bella
Luciana Rigoli
Publication date
01-10-2003
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 10/2003
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-003-1280-1

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