Next generation sequencing reveals novel compound heterozygous deletions in <i>NDUFAF2</i> in a child with mitochondrial complex I deficiency, nuclear type 10-Reference-Cited by-同舟云学术

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Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10

Published:2024-03-13 Issue:7 Volume:194 Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Marshall Aren E.¹^ORCID,Brady Lauren²,Yeh Ed³,Mears Alan J.³,Lacaria Melanie³^ORCID,Chakraborty Pranesh³^ORCID,Tarnopolsky Mark A.²^ORCID,Kernohan Kristin D.¹³

Affiliation:

1. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada

2. Division of Neuromuscular & Neurometabolic Disorders, Department of Pediatrics McMaster University, Hamilton Health Sciences Centre Hamilton Ontario Canada

3. Newborn Screening Ontario Children's Hospital of Eastern Ontario Ottawa Ontario Canada

Funder

Canadian Institutes of Health Research

Wellcome Trust

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63590

Reference10 articles.

1. The unique neuroradiology of complex I deficiency due to NDUFA12L defect

2. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

3. Bovine Complex I Is a Complex of 45 Different Subunits

4. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

5. Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect

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