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Updated: Jul 12, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

一个新的DHTKD1基因突变与ALS类似的呈现:一个病例报告

Deepak Menon¹, Saraswati Nashi¹, Manisha Mohanty¹

¹Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and.

Amyotrophic lateral sclerosis & frontotemporal degeneration

|October 26, 2023

概括

对于线粒体新陈代谢至关重要的DHTKD1基因的突变可以导致各种神经系统疾病. 这项研究详细介绍了一例与DHTKD1变体相关的晚发性ALS病例,强调对零星病例进行遗传测试.

科学领域:

生物化学生化学
遗传学是一个遗传学.
神经科学是一个神经科学.

背景情况:

DHTKD1基因编码了线粒体代谢中的一个关键酶.
DHTKD1的突变与2 - 氨基和2 - 氧酸性酸性尿,CMT2Q和ALS有关.
了解DHTKD1的作用对于诊断和治疗相关的神经疾病至关重要.

关键词:

这就是ALS.其他ALS基因型在CMT2QQ中使用CMT2QQ.在 DHTKD1 的情况下.

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