Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11

Volume: 62, Issue: 11, Pages: 103572 - 103572
Published: Nov 1, 2019
Abstract
Mitochondrial complex I deficiency is the most frequent mitochondrial disorder presenting in childhood and the mutational spectrum is highly heterogeneous. The NDUFB11 gene is one of the recently identified genes, which is located in the short arm of the X-chromosome. Here we report clinical, biochemical, functional and genetic findings of two male patients with lactic acidosis, hypertrophic cardiomyopathy and isolated complex I deficiency due...
Paper Details
Title
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11
Published Date
Nov 1, 2019
Volume
62
Issue
11
Pages
103572 - 103572
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