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Article

[Pediatric amyotrophic lateral sclerosis caused by FUS gene variation in 2 cases].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Sept 2024

Yan Y, Huang S Y, Feng Y J, Zhao C Y, Sheng G X, Chen J, Jiang J J, Gao F, Mao S S

Abstract excerpt

2例肌萎缩侧索硬化症女性患儿，发病年龄分别为13岁和10岁11月龄，均以右上肢无力起病，逐渐累及下肢，出现行走困难。全外显子基因检测均发现FUS基因新发杂合变异，例1携带c.1574C>T（p.Pro525Leu）变异，例2携带c.1575_1576dup（p.Tyr526Cysfs*4）为新变异。例1发病6个月死于呼吸衰竭，例2起病后10个月进展为竖头不稳，不能独坐，四肢活动障碍。.

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Source

Identifiers

PMID: 39192451
DOI: 10.3760/cma.j.cn112140-20240315-00184

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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