Novel Pathogenic Variant in the Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot.
作者信息
Sahoo Lulup K, Kota Vidyasagar, Panigrahi Pradeep K, Pattnaik Srimant, Mishra Ajit P, Sahoo Srikanta K
机构信息
From the Department of Neurology (L.K.S., V.K., S.P., A.P.M., S.K.S.), and Department of Opthalmology (P.K.P.), IMS and SUM Hospital, Bhubaneswar, India.
出版信息
Neurology. 2023 Nov 7;101(19):861-862. doi: 10.1212/WNL.0000000000207715. Epub 2023 Aug 21.
Abstract
摘要
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本文引用的文献
1
Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1.
J Mov Disord. 2021 Sep;14(3):256-258. doi: 10.14802/jmd.20119. Epub 2021 Apr 26.
2
Progressive myoclonus ataxia: Time for a new definition?
Mov Disord. 2018 Aug;33(8):1281-1286. doi: 10.1002/mds.27412. Epub 2018 Aug 25.
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