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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Bibliographic Details
Published inInternational journal of cardiology Vol. 120; no. 2; pp. 284 - 285
Main Authors Dhandapany, Perundurai S, Sadayappan, Sakthivel, Vanniarajan, Ayyasamy, Karthikeyan, Bose, Nagaraj, Chandran, Gowrishankar, Kalpana, Selvam, Govindan Sadasivam, Singh, Lalji, Thangaraj, Kumarasamy
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier Ireland Ltd 21.08.2007
Subjects
Cardiovascular
Carrier Proteins - genetics
Child
DNA, Mitochondrial - genetics
Genetic Predisposition to Disease
Humans
Hypertrophic cardiomyopathy
Intracellular Signaling Peptides and Proteins - genetics
Male
Mitochondrial DNA mutations
Mutation
Myosin Heavy Chains - genetics
Myosins
Noonan syndrome
Noonan Syndrome - genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 11
Protein Tyrosine Phosphatases - genetics
Sarcomeric protein mutation
SH2 Domain-Containing Protein Tyrosine Phosphatases
src Homology Domains
Troponin T - genetics
Hypertrophic cardiomyopathy
Sarcomeric protein mutation
Noonan syndrome
Mitochondrial DNA mutations
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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.
ISSN:0167-5273
1874-1754
DOI:10.1016/j.ijcard.2006.07.229