AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype–Phenotype Characterization Compared to OPA1 Patients-Reference-Cited by-同舟云学术

AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype–Phenotype Characterization Compared to OPA1 Patients

Published:2024-06 Issue: Volume:262 Page:114-124
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Amore Giulia,Romagnoli Martina^ORCID,Carbonelli Michele^ORCID,Cascavilla Maria Lucia,De Negri Anna Maria,Carta Arturo^ORCID,Parisi Vincenzo,Di Renzo Antonio,Schiavi Costantino,Lenzetti Chiara,Zenesini Corrado^ORCID,Ormanbekova Danara,Palombo Flavia^ORCID,Fiorini Claudio^ORCID,Caporali Leonardo^ORCID,Carelli Valerio^ORCID,Barboni Piero^ORCID,La Morgia Chiara^ORCID

Funder

Ministero della Salute

Fondazione Roma

Chiesi Farmaceutici

Publisher

Elsevier BV

Reference36 articles.

1. Dominant optic atrophy: culprit mitochondria in the optic nerve;Lenaers;Prog Retin Eye Res,2020

2. Multi-system neurological disease is common in patients with OPA1 mutations;Yu-Wai-Man;Brain,2010

3. Syndromic parkinsonism and dementia associated with OPA1 missense mutations;Carelli;Ann Neurol,2015

4. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy;Delettre;Nat Genet,2000

5. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000

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