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 ,
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
