Title of article
Novel mitochondrial DNA mutations implicated in Noonan syndrome
Author/Authors
Perundurai S. Dhandapany، نويسنده , , Sakthivel Sadayappan، نويسنده , , Ayyasamy Vanniarajan، نويسنده , , Bose Karthikeyan، نويسنده , , Chandran Nagaraj، نويسنده , , Kalpana Gowrishankar، نويسنده , , Govindan Sadasivam Selvam، نويسنده , , Lalji Singh، نويسنده , , Kumarasamy Thangaraj، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2007
Pages
2
From page
284
To page
285
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.
Keywords
Noonan syndrome , mitochondrial DNA mutations , hypertrophic cardiomyopathy , Sarcomeric protein mutation
Journal title
International Journal of Cardiology
Serial Year
2007
Journal title
International Journal of Cardiology
Record number
815352
Link To Document