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Updated: Jul 6, 2025

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米托素2变体呈现出脑小脑亚型多系统缩的表型

Adrienne Elbert1, Katherine Dixon1, Yaoqing Shen1

  • 1From the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.

Neurology. Genetics
|January 3, 2024
PubMed
概括

在MFN2的一个遗传变异导致渐进的小脑缩和小脑缩,模仿多系统缩,小脑类型 (MSA-C) 在这个病人.

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