Article
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
European journal of human genetics : EJHG - 1 Feb 2011
Kleefstra Tjitske, Wortmann Saskia B, Rodenburg Richard J T, Bongers Ernie M H F, Hadzsiev Kinga, Noordam Cees, van den Heuvel Lambert P, Nillesen Willy M, Hollody Katalin, Gillessen-Kaesbach Gabrielle, Lammens Martin, Smeitink Jan A M, van der Burgt Ineke, Morava Eva
Abstract excerpt
Various syndromes of the Ras-mitogen-activated protein kinase (MAPK) pathway, including the Noonan, Cardio-Facio-Cutaneous, LEOPARD and Costello syndromes, share the common features of craniofacial dysmorphisms, heart defect and short stature. In a subgroup of patients, severe muscle hypotonia, central nervous system involvement and failure to thrive occur as well. In this study we report on five children...
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