NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

Abstract Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI deficiency in the brazilian population by reporting three pati...

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Bibliographic Details
Main Authors: Vanessa Zanette, Daniel do Valle, Bruno Augusto Telles, Alan J. Robinson, Vaneisse Monteiro, Mara Lucia S. F. Santos, Ricardo Lehtonen R. Souza, Cristiane Benincá
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2021-11-01
Series:Genetics and Molecular Biology
Subjects:
Leigh Syndrome
mitochondrial diseases
metabolic acidosis
encephalomyopathies
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600104&tlng=en

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