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• W2003127673 abstract "<b><i>Article abstract</i></b> The authors report a patient with ALS and a novel <i>SOD1</i> gene mutation who was in the totally locked-in state and developed autonomic failure followed by sudden cardiac arrest. A neuropathologic study showed widespread multisystem degeneration, including involvement of the autonomic nuclei in the medulla and spinal cord. <i>SOD1</i> gene analysis detected a missense mutation of V118L in exon 4. These findings show notable phenotypic heterogeneity for <i>SOD1</i>-associated ALS." @default.
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• W2003127673 date "2000-04-11" @default.
• W2003127673 modified "2023-10-16" @default.
• W2003127673 title "Autonomic failure in ALS with a novel SOD1 gene mutation" @default.
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• W2003127673 doi "https://doi.org/10.1212/wnl.54.7.1534" @default.
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