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.

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I RID D-6064-2011

PETRUZZELLA, Vittoria;
2003

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11586/55424
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