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Updated: May 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case-Series and Literature Review

Sangeetha Yoganathan1, Laura Tochen2, Jacky Ganguly3

  • 1Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.

Movement Disorders Clinical Practice
|May 12, 2026
PubMed
Abstract

Keywords:
AFG3L2 genechoreoathetosisdevelopmental regressiondystoniaheterozygous variantoptic atrophyspinocerebellar ataxia 28

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