1.
J Inherit Metab Dis
; 26(8): 813-5, 2003.
Article
in English
| MEDLINE
| ID: mdl-14765537
ABSTRACT
A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.