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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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-11-01
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| Series: | Medical Journal of Dr. D.Y. Patil Vidyapeeth |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/mjdrdypu.mjdrdypu_843_23 |
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