Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Dhandapany, PS; Sadayappan, S; Vanniarajan, A; Karthikeyan, B; Nagaraj, C; Gowrishankar, K; Selvam, GS; Singh, L; Thangaraj, K.
Novel mitochondrial DNA mutations implicated in Noonan syndrome.
Int J Cardiol. 2007; 120(2): 284-285.
Doi: 10.1016/j.ijcard.2006.07.229
(- Case Report)
Web of Science
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- Co-Autor*innen der Med Uni Graz
- Chandran Nagaraj
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Carrier Proteins - genetics
- Child -
- DNA, Mitochondrial - genetics
- Genetic Predisposition to Disease -
- Humans -
- Intracellular Signaling Peptides and Proteins - genetics
- Male -
- Mutation -
- Myosin Heavy Chains - genetics
- Myosins -
- Noonan Syndrome - genetics
- Protein Tyrosine Phosphatase, Non-Receptor Type 11 -
- Protein Tyrosine Phosphatases - genetics
- SH2 Domain-Containing Protein Tyrosine Phosphatases -
- Troponin T - genetics
- src Homology Domains -
- Find related publications in this database (Keywords)
- Noonan syndrome
- mitochondrial DNA mutations
- hypertrophic cardiomyopathy
- sarcomeric protein mutation