期刊
MITOCHONDRION
卷 21, 期 -, 页码 33-40出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2015.01.003
关键词
MITOCHONDRIAL encephalomyopathies; Mitochondrial complex I deficiency; Leukoencephalopathies; NADH-ubiquinone oxidoreductase Fe-S protein 1 (NDUFS1) mutations; NADH-ubiquinone oxidoreductase flavoprotein 1 (NDUFV1) mutations
We report clinical, metabolic, genetic and neuroradiological findings in five patients from three different families with isolated complex I deficiency. Genetic analysis revealed mutations in NDUFS1 in three patients and in NDUFV1 in two patients. Four of the mutations are novel and affect amino acid residues that either are invariant among species or conserved in their properties. The presented clinical courses are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum. A literature review was performed, showing that patients with mutations in NDUFS1 in general have a worse prognosis than patients with mutations in NDUFV1. (C) 2015 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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