Novel mitochondrial DNA mutations implicated in Noonan syndrome

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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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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