Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5 ‐related disorders-Reference-Cited by-同舟云学术

Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5 ‐related disorders

Published:2021-11-19 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Legro Nicole R.¹²^ORCID,Kumar Ashutosh²³,Aliu Ermal²⁴

Affiliation:

1. Pennsylvania State University College of Medicine Hershey Pennsylvania USA

2. Penn State Health Milton S. Hershey Medical Center Hershey Pennsylvania USA

3. Division of Neurology, Department of Pediatrics Pennsylvania State University College of Medicine Hershey Pennsylvania USA

4. Division of Medical Genetics, Department of Pediatrics Pennsylvania State University College of Medicine Hershey Pennsylvania USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62568

Reference18 articles.

1. A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood

2. Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

3. Complex I deficiency: clinical features, biochemistry and molecular genetics

4. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

5. The Assembly Pathway of Mitochondrial Respiratory Chain Complex I

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2. Before homozygous NDUFAF5 variants are held responsible for intrauterine death, their pathogenicity must be demonstrated;Ultrasound in Obstetrics & Gynecology;2024-02-10

3. Clinical Approaches for Mitochondrial Diseases;Cells;2023-10-20

4. Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5;Movement Disorders;2023-09-27

5. Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of the phenotype;Ultrasound in Obstetrics & Gynecology;2023-09-18