Novel Gene Mutation Variant in Hypomyelinating Leukodystrophy-8: A Case Report

Novel Gene Mutation Variant in Hypomyelinating Leukodystrophy-8: A Case Report

The incidence of hypomyelinating leukodystrophies is approximately 1 in every 250,000–500,000 individuals in the population. Hypomyelinating leukodystrophy-8 (HLD-8) is characterized by classical clinical features, including modest intellectual deficits and early-onset progressive cerebellar ataxia,...

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Bibliographic Details
Main Authors: Shalesh Rohatgi, Pranit Khandait, Satish Nirhale, Prajwal Rao, Pravin Naphade
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2024-11-01
Series:Medical Journal of Dr. D.Y. Patil Vidyapeeth
Subjects:
hld-8
hypomyelinating leukodystrophy-8
novel variant
polr3b
Online Access:https://journals.lww.com/10.4103/mjdrdypu.mjdrdypu_843_23
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