Case report: Episodic ataxia without ataxia?

Case report: Episodic ataxia without ataxia?

Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely influenced by genetic and environmental modifiers. Gen...

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Bibliographic Details
Main Authors: Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Francesca Sanguineri, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, Paola Mandich
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Neurology
Subjects:
hereditary myopathies
UBR4
HSPG2
episodic ataxia
genetic modifiers
genetic testing
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1224241/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1224241/full

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