4H leukodystrophy
Abstract
Hypomyelinating leukodystrophy with hypodontia and hypogonadotropic hypogonadism (4H leukodystrophy), also known as POLR3-related leukodystrophy, is a genetic disorder caused by autosomal recessive mutations in the POLR3A , POLR3B , POLR1C , or POLR3K genes.1–3 Most patients have progressive motor deficits.4 We present 2 siblings with a milder phenotype and lack of disease progression previously reported within a larger cohort of...
Paper Details
Title
4H leukodystrophy
Published Date
Apr 1, 2020
Journal
Volume
6
Issue
2
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Notes
History