A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation

A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation

Background: Ataxia neuropathy spectrum, including sensory ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO), is a part of polymerase gamma (POLG) gene-related disorder, a heterogeneous group of mitochondrial disorders. Childhood onset of the SANDO phenotype is rare, and we describe such a...

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Bibliographic Details
Main Authors: Ami Shah, Shilpa Kulkarni, Snehal Mallakmir, Rashid Merchant
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Indian Pediatrics Case Reports
Subjects:
ataxia
children
gait
mitochondrial disorder
ophthalmoparesis
Online Access:http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=2;spage=86;epage=89;aulast=Shah

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http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=2;spage=86;epage=89;aulast=Shah

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