Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

被引：0

作者：

Alessia Nasca

Teresa Rizza

Mara Doimo

Andrea Legati

Andrea Ciolfi

Daria Diodato

Cristina Calderan

Gianfranco Carrara

Eleonora Lamantea

Chiara Aiello

Michela Di Nottia

Marcello Niceta

Costanza Lamperti

Anna Ardissone

Stefania Bianchi-Marzoli

Giancarlo Iarossi

Enrico Bertini

Isabella Moroni

Marco Tartaglia

Leonardo Salviati

Rosalba Carrozzo

Daniele Ghezzi

机构：

[1] Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular Neurogenetics

[2] Bambino Gesù Children’s Hospital,Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine

[3] IRCCS,Department of Woman and Child Health, Clinical Genetics Unit

[4] University of Padova,Istituto di Ricerca Pediatria, IRP

[5] Città della Speranza,Division of Genetics and Rare Diseases, Molecular Genetics and Genomics Unit

[6] Bambino Gesù Children’s Hospital,Unit of Child Neurology

[7] IRCCS,Department of Ophthalmology, Neuro

[8] Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,ophthalmology Unit

[9] IRCCS Istituto Auxologico Italiano,Department of Ophthalmology

[10] Bambino Gesù IRCSS Children’s Hospital,undefined

来源：

Orphanet Journal of Rare Diseases | / 12卷

关键词：

OPA1; Optic atrophy; Mitochondrial disorder; Encephalopathy; Recessive trait; Targeted resequencing; WES;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

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