Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Kleefstra, Tjitske

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. [electronic resource] - European journal of human genetics : EJHG Feb 2011 - 138-44 p. digital

Publication Type: Journal Article

1476-5438

10.1038/ejhg.2010.171 doi


Abnormalities, Multiple--genetics
Adolescent
Barth Syndrome--genetics
Child, Preschool
Craniofacial Abnormalities--genetics
DNA, Mitochondrial--genetics
Female
Heart Defects, Congenital--genetics
Humans
Infant
LEOPARD Syndrome--genetics
MAP Kinase Signaling System--genetics
Middle Aged
Mitochondrial Encephalomyopathies--genetics
Multiple Acyl Coenzyme A Dehydrogenase Deficiency--genetics
Mutation
Protein Tyrosine Phosphatase, Non-Receptor Type 11--genetics
Proto-Oncogene Proteins p21(ras)--genetics
Skin Abnormalities--genetics
ras Proteins--genetics