The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report

The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of a 71 years-old man diagnosed with ALS with atypical clinical features consisting in progressive ocu...

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Bibliographic Details
Main Authors: Veria Vacchiano, Flavia Palombo, Danara Ormanbekova, Claudio Fiorini, Alessia Fiorentino, Leonardo Caporali, Andrea Mastrangelo, Maria Lucia Valentino, Sabina Capellari, Rocco Liguori, Valerio Carelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Genetics
Subjects:
SOD1
amyotrophic lateral sclerosis
TBK1
mitochondrial DNA
oligogenic inheritance
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1322067/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1322067/full

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