Amyotrophy is a recurrent muscle weakness affecting the neck and arms; it occurs due to defects in cervical and thoracic spinal nerves. It is generally triggered by stress, such as infection, immunization, or labor at childbirth. The mutation apparently occurs in the septin gene (SEPT9) involved in the formation of the cytoskeleton, in cell division, and in tumorigenesis. (See Kuhlenbäumer G et al 2005 Nature Genet 37:1044; Parsonage-Turner syndrome, Guillain-Barré syndrome)
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(2008). Amyotrophy, Hereditary, Neuralgic (HNA, 17q25). In: Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-6754-9_719
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DOI: https://doi.org/10.1007/978-1-4020-6754-9_719
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