A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant-Reference-Cited by-同舟云学术

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant

Published:2018-05 Issue: Volume:196 Page:309-313.e3
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Baertling Fabian^ORCID,Sánchez-Caballero Laura,van den Brand Mariël A.M.,Distelmaier Felix,Janssen Mirian C.H.,Rodenburg Richard J.T.^ORCID,Smeitink Jan A.M.,Nijtmans Leo G.J.

Funder

European Commission

United Mitochondrial Disease Foundation

German Research Foundation

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. Human mitochondrial DNA: roles of inherited and somatic mutations;Schon;Nat Rev Genet,2012

2. Complex I deficiency: clinical features, biochemistry and molecular genetics;Fassone;J Med Genet,2012

3. Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options;Nouws;Brain,2012

4. Mitochondrial DNA mutations in human disease;Taylor;Nat Rev Genet,2005

5. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder;Hudson;Am J Hum Genet,2005

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