Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation-Reference-Cited by-同舟云学术

Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation

Published:2020-11 Issue:3 Volume:131 Page:341-348
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

González-Quintana Adrián,Trujillo-Tiebas María J.,Fernández-Perrone Ana L.,Blázquez Alberto,Lucia Alejandro,Morán María,Ugalde Cristina,Arenas Joaquín,Ayuso Carmen,Martín Miguel A.

Funder

Spanish Instituto de Salud Carlos III (ISCIII)-ERDF

Education Council, Comunidad de Madrid, Spain

AEPMI/FACDM Spanish mitochondrial patient's associations

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference32 articles.

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2. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations;Swalwell;Eur. J. Hum. Genet.,2011

3. Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency;Ugalde;Hum. Mol. Genet.,2004

4. Ndufs4 related Leigh syndrome: a case report and review of the literature;Ortigoza-Escobar;Mitochondrion.,2016

5. Leigh syndrome transmitted by uniparental disomy of chromosome 9;Tiranti;J. Med. Genet.,1999

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