Expanding <i>SPG7</i> dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia-Reference-Cited by-同舟云学术

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Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia

Published:2022-11-11 Issue:2 Volume:191 Page:582-585
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:

Seo Yuri¹^ORCID,Lim Hyun Taek²,Lee Byung Joo³,Han Jinu⁴^ORCID

Affiliation:

1. Department of Ophthalmology, Institute of Vision Research, Yongin Severance Hospital Yonsei University College of Medicine Yongin South Korea

2. Seoul Orthopia Eye Clinic Seoul South Korea

3. Department of Ophthalmology, Asan Medical Center University of Ulsan College of Medicine Seoul South Korea

4. Department of Ophthalmology, Institute of Vision Research, Gangnam Severance Hospital Yonsei University College of Medicine Seoul South Korea

Funder

Korea Centers for Disease Control and Prevention

National Research Foundation of Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63037

Reference14 articles.

1. Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

2. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

3. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

4. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

5. A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy

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