Spastic Paraplegia As The Only Symptom In Two Adult-Onset Patients Carrying A Novel Pathogenic Variant In Pycr2

EUROPEAN JOURNAL OF NEUROLOGY（2021）

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摘要

A novel pathogenic PYCR2 variant and corresponding brain images in two patients characterized by spastic paraplegia.

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关键词

hypomyelinating leucodystrophies 10, spastic paraplegia, PYCR2, adult-onset

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