Article
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
JAMA neurology - 1 Jan 2018
Charif Majida, Nasca Alessia, Thompson Kyle, Gerber Sylvie, Makowski Christine, Mazaheri Neda, Bris Céline, Goudenège David, Legati Andrea, Maroofian Reza, Shariati Gholamreza, Lamantea Eleonora, Hopton Sila, Ardissone Anna, Moroni Isabella, Giannotta Melania, Siegel Corinna, Strom Tim M, Prokisch Holger, Vignal-Clermont Catherine, Derrien Sabine, Zanlonghi Xavier, Kaplan Josseline, Hamel Christian P, Leruez Stephanie, Procaccio Vincent, Bonneau Dominique, Reynier Pascal, White Frances E, Hardy Steven A, Barbosa Inês A, Simpson Michael A, Vara Roshni, Perdomo Trujillo Yaumara, Galehdari Hamind, Deshpande Charu, Haack Tobias B, Rozet Jean-Michel, Taylor Robert W, Ghezzi Daniele, Amati-Bonneau Patrizia, Lenaers Guy
Abstract excerpt
Importance: Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. Objective: To define the spectrum of clinical phenotypes associated with mutations in RTN4IP1 encoding a mitochondrial quinone oxidoreductase. Design, Setting, and...
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