Dystonia in a Patient with Genetically Proven Salih Ataxia Due to a Novel Truncating Variant: Expanding the Genotypic and Phenotypic Spectrum.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2024-10-01 Epub Date: 2024-06-27 DOI:10.1002/mdc3.14152

Nitish Kamble, Vikram V Holla, Pavan Kumar Katragadda, Babylakshmi Muthusamy, Pramod Kumar Pal

引用次数: 0

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一名经基因证实的萨利共济失调患者因新型截短变异而出现肌张力障碍：扩大基因型和表型范围。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)