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• W4285391497 abstract "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. In 10% the disease is familial and rarely occurs in childbearing age women. A 28-year-old female pregnancy patient presented a two-month history of dropped head syndrome, dysphagia, muscle weakness, atrophy, and lingual wasting. Electromyography supported the diagnosis of ALS. Due to family history and background, we carried out molecular genetic testing. We identified a novel variant of uncertain significance: c. 1566 G > C (p.Arg522Ser) in exon 15 in FUS gene. Our findings provide the first case of ALS onset during pregnancy with a novel mutation in FUS gene reported in Mexico." @default.
• W4285391497 created "2022-07-14" @default.
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• W4285391497 date "2022-05-04" @default.
• W4285391497 modified "2023-09-26" @default.
• W4285391497 title "<i>FUS</i> as a cause of familial Amyotrophic lateral sclerosis, a case report in a pregnant patient" @default.
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• W4285391497 doi "https://doi.org/10.1080/13554794.2022.2100265" @default.
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