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A novel SIGMAR1 missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China

We present the case of a 16-year-old East Asian Chinese girl with a novel mutation in the SIGMAR1 gene, initially diagnosed as juvenile amyotrophic lateral sclerosis (JALS). At the age of five, she began to exhibit gait abnormalities while walking, a condition that persisted for 4 years until muscle...

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Bibliografski detalji
Glavni autori: Qinglong Yu, Risna Begam Mohammed Nazar, Sihui Chen, Qiaoling Qian, Junhui Wang, Xueping Chen
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2025-04-01
Serija:Frontiers in Genetics
Teme:
Online pristup:https://www.frontiersin.org/articles/10.3389/fgene.2025.1477518/full
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