Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2-Reference-Cited by-同舟云学术

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

Published:2020-06 Issue:6 Volume:7 Page:1013-1028
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Blackburn Patrick R.¹^ORCID,Schultz Matthew J.¹,Lahner Carrie A.¹,Li Dong²,Bhoj Elizabeth²,Fisher Laura J.³,Renaud Deborah L.⁴,Kenney Amy⁵,Ibrahim Niema⁶,Hashem Mais⁶,Zain Seidahmed Mohammed⁷,Hasadsri Linda¹,Schrier Vergano Samantha A.⁵⁸,Alkuraya Fowzan S.⁶⁹^ORCID,Lanpher Brendan C.³

Affiliation:

1. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota

2. Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania

3. Department of Clinical Genomics Mayo Clinic Rochester Minnesota

4. Departments of Neurology and Pediatrics Mayo Clinic Rochester Minnesota

5. Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia

6. Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

7. Division of Neonatology Department of Pediatrics Security Forces Hospital Riyadh Saudi Arabia

8. Department of Pediatrics Eastern Virginia Medical School Norfolk Virginia

9. Department of Anatomy and Cell Biology College of Medicine Alfaisal University Riyadh Saudi Arabia

Funder

Mayo Clinic

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51074

Reference22 articles.

1. Aconitase Couples Metabolic Regulation to Mitochondrial DNA Maintenance

2. Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

3. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant

4. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency

5. ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

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