Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

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 a...

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Veröffentlicht in:	JAMA neurology 2018-01, Vol.75 (1), p.105-113
Hauptverfasser:	Charif, Majida, Nasca, Alessia, Thompson, Kyle, Gerber, Sylvie, Makowski, Christine, Mazaheri, Neda, Bris, Céline, Goudenège, David, Legati, Andrea, Marrofian, 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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Carrier Proteins - genetics Central Nervous System Diseases - genetics Child Child, Preschool Family Health Female Genetic Association Studies Humans Infant Life Sciences Male Mitochondrial Proteins - genetics Muscle, Skeletal - pathology Mutation - genetics Online First Optic Atrophy - genetics Original Investigation Phenotype Young Adult
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