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Article

[Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].

Revista de neurologia - 1 Feb 2023

García-Cabo C, Carvajal-García P, Fernández-Vega I, Peña-Suárez J, Mateos-Marcos V, Suárez-Santos P, Álvarez-Martínez V, Morís-de la Tassa G

Abstract excerpt

INTRODUCTION: Sensory ataxia is a frequent symptom in numerous neurological pathologies, being a frequent clinical manifestation in diseases related to genes influencing mitochondrial metabolism, such as POLG. The aim is to describe the differential characteristics of four patients with pathogenic variants in the POLG gene with clinical expression in the form of adult-onset ataxia and sensory neuropathy. PATIENTS...

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Identifiers

PMID: 36703500
DOI: 10.33588/rn.7603.2022322
PMCID: PMC10364044

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