Abstract
The c.161G>C was first detected in China and related to pure peripheral neuropathies, which is different from the first case reported in an Italy family featured by peripheral neuropathies with restrictive cardiomyopathy. Besides the reported phenotype of late-onset axonal polyneuropathy with prominent pain and autonomic dysfunction, our patients bearing c.165G>C also exhibited renal failure and vitreous opacity. [...]routine TTR screening is needed in IPN patients. Funding This study was supported by grants from the National Natural Science Foundation of China (No. 81771366), the Hunan Provincial Natural Science Foundation of China (No. 2017JJ2365), the Science Foundation of Health and Family Planning Commission of Hunan Province (No.
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1 Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, China;; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, China;
2 Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, China;
3 Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410013, China;
4 National Clinical Research Center for Geriatric Disorders, Changsha, Hunan 410008, China