Dhandapany, Perundurai S. ; Sadayappan, Sakthivel ; Vanniarajan, Ayyasamy ; Karthikeyan, Bose ; Nagaraj, Chandran ; Gowrishankar, Kalpana ; Sadasivam Selvama, Govindan ; Singh, Lalji ; Thangaraj, Kumarasamy (2007) Novel mitochondrial DNA mutations implicated in Noonan syndrome International Journal of Cardiology, 120 (2). pp. 284-285. ISSN 0167-5273
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Official URL: http://www.internationaljournalofcardiology.com/ar...
Related URL: http://dx.doi.org/10.1016/j.ijcard.2006.07.229
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.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Elsevier Science. |
| Keywords: | Noonan Syndrome; Mitochondrial DNA Mutations; Hypertrophic Cardiomyopathy; Sarcomeric Protein Mutation |
| ID Code: | 46843 |
| Deposited On: | 06 Jul 2011 06:52 |
| Last Modified: | 06 Jul 2011 06:52 |
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