Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.
Morava
Eva
E
Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl
Hamel
Ben
B
Hol
Frans
F
Rodenburg
Richard
R
Smeitink
Jan
J
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D009245:NADH Dehydrogenase / Q000235:genetics*; D009426:Netherlands; D010375:Pedigree; D011859:Radiography; D013577:Syndrome
D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human