Dystonia type 28 with early onset (DYT-KMT2B): a clinical case

This article presents a clinical observation of a patient with a rare form of primary dystonia – type 28 dystonia associated with a heterozygous mutation in the KMT2B gene (OMIM: 617284) for the first time in the Russian literature. The disease started at the age of 6 years with unilateral dystonia...

Full description

Saved in:
Bibliographic Details
Main Authors: V. A. Bulanova, M. A. Bykanova, N. А. Kuleva
Format: Article
Language:Russian
Published: ABV-press 2022-12-01
Series:Русский журнал детской неврологии
Subjects:
Online Access:https://rjdn.abvpress.ru/jour/article/view/409
Tags: Add Tag
No Tags, Be the first to tag this record!