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Neuronopathy, distal hereditary motor

MedGen UID:
490123
Concept ID:
CN169884
Disease or Syndrome
Related genes: REEP1, SLC5A7, HSPB8, IGHMBP2, HSPB1, GARS1

Professional guidelines

PubMed

Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L
Am J Med Genet A 2020 May;182(5):1167-1176. Epub 2020 Mar 17 doi: 10.1002/ajmg.a.61544. PMID: 32181591Free PMC Article

Recent clinical studies

Etiology

Cutrupi AN, Narayanan RK, Perez-Siles G, Grosz BR, Lai K, Boyling A, Ellis M, Lin RCY, Neumann B, Mao D, Uesugi M, Nicholson GA, Vucic S, Saporta MA, Kennerson ML
Brain 2023 Mar 1;146(3):880-897. doi: 10.1093/brain/awac424. PMID: 36380488Free PMC Article
Xie C, Zhou X, Zhu D, Liu W, Wang X, Yang H, Li Z, Hao Y, Zhang GX, Guan Y
Neurol Sci 2016 Jul;37(7):1063-70. Epub 2016 Apr 20 doi: 10.1007/s10072-016-2537-6. PMID: 27098243
Hsiao CT, Tsai PC, Lin CC, Liu YT, Huang YH, Liao YC, Huang HW, Lin KP, Soong BW, Lee YC
PLoS One 2016;11(1):e0147677. Epub 2016 Jan 27 doi: 10.1371/journal.pone.0147677. PMID: 26815532Free PMC Article

Diagnosis

Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L
Am J Med Genet A 2020 May;182(5):1167-1176. Epub 2020 Mar 17 doi: 10.1002/ajmg.a.61544. PMID: 32181591Free PMC Article

Clinical prediction guides

Hwang SH, Kim EJ, Hong YB, Joo J, Kim SM, Nam SH, Hong HD, Kim SH, Oh K, Lim JG, Cho JH, Chung KW, Choi BO
Mol Med Rep 2016 Oct;14(4):3362-8. Epub 2016 Aug 22 doi: 10.3892/mmr.2016.5664. PMID: 27573046

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