Novel mitochondrial DNA mutations implicated in Noonan syndrome
Abstract We report a case of Noonan syndrome with compound mutations in a sarcomeric contractile protein gene and several novel mutations in mitochondrial genes. Our case forms the first report, which emphasizes the importance of mtDNA mutations in Noonan syndrome and extends the scope for mitochond...
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Published in | International journal of cardiology Vol. 120; no. 2; pp. 284 - 285 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Netherlands
Elsevier Ireland Ltd
21.08.2007
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Subjects | |
Online Access | Get full text |
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Summary: | Abstract We report a case of Noonan syndrome with compound mutations in a sarcomeric contractile protein gene and several novel mutations in mitochondrial genes. Our case forms the first report, which emphasizes the importance of mtDNA mutations in Noonan syndrome and extends the scope for mitochondrial related syndromes. |
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ISSN: | 0167-5273 1874-1754 |
DOI: | 10.1016/j.ijcard.2006.07.229 |