Format

Send to

Choose Destination
Int J Cardiol. 2007 Aug 21;120(2):284-5. Epub 2006 Nov 7.

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 mitochondrial related syndromes.

PMID:
17092585
DOI:
10.1016/j.ijcard.2006.07.229
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center