[We describe the second documented case in the literature to have a SURF-1 mutation presenting with diffuse leukodystrophy, adding to the growing number of cases of mitochondrial syndromes presenting with white matter disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE