<i>OPA1</i> Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

<i>OPA1</i> Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 (<i>OPA1)</i> mutations to establish whether there is a genotype–phenotype correlation among the variants detected within and between families. Eleven children with a confirmed <...

Full description

Bibliographic Details
Main Authors: Natalia Arruti, Patricia Rodríguez-Solana, María Nieves-Moreno, Marta Guerrero-Carretero, Ángela del Pozo, Victoria E. F. Montaño, Fernando Santos-Simarro, Emi Rikeros-Orozco, Luna Delgado-Mora, Elena Vallespín, Susana Noval
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Current Issues in Molecular Biology
Subjects:
dominant optic atrophy
Kjer type
<i>OPA1</i>
mitochondrial neuropathies
Online Access:https://www.mdpi.com/1467-3045/45/1/30

Internet

https://www.mdpi.com/1467-3045/45/1/30

Similar Items