Charcot-Marie-Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss

被引：0
|
作者：
Li, Yafeng [1 ]
Aleman, Tomas S. [1 ]
Quinn, Colin C. [2 ]
Xia, Tian [1 ]
Miller, Charles G. [1 ]
Kim, Benjamin J. [1 ]
Tamhankar, Madhura A. [1 ]
机构：
[1] Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA
[2] Univ Penn, Perelman Sch Med, Hosp Univ Penn, Dept Neurol, Philadelphia, PA USA
来源：
JOURNAL OF NEURO-OPHTHALMOLOGY | 2022年 / 42卷 / 01期
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：E381 / E384
页数：4
相关论文
共 50 条
  • [41] Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
    Chung, K. W.
    Kim, S. B.
    Park, K. D.
    Choi, K. G.
    Lee, J. H.
    Eun, H. W.
    Suh, J. S.
    Hwang, J. H.
    Kim, W. K.
    Seo, B. C.
    Kim, S. H.
    Son, I. H.
    Kim, S. M.
    Sunwoo, I. N.
    Choi, B. O.
    BRAIN, 2006, 129 : 2103 - 2118
  • [42] POLG mutations presenting as Charcot-Marie-Tooth disease
    Phillips, Jade
    Courel, Steve
    Rebelo, Adriana P.
    Bis-Brewer, Dana M.
    Bardakjian, Tanya
    Dankwa, Lois
    Hamedani, Ali G.
    Zuchner, Stephan
    Scherer, Steven S.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2019, 24 (02) : 213 - 218
  • [43] NEPHROPATHY ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE
    HARA, M
    ICHIDA, F
    HIGUCHI, A
    TANIZAWA, T
    OKADA, T
    INTERNATIONAL JOURNAL OF PEDIATRIC NEPHROLOGY, 1984, 5 (02): : 99 - 102
  • [44] MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations
    Nan, Haitian
    Hata, Takanori
    Fukao, Toko
    Fukao, Toshimichi
    Chen, Wanjing
    Kurita, Takafumi
    Natori, Takahiro
    Takiyama, Yoshihisa
    INTERNAL MEDICINE, 2021, 60 (24) : 3969 - 3974
  • [45] New mutation in a patient with Charcot-Marie-Tooth disease
    Dominguez Diez, F. J.
    Lopez Alburquerque, J. T.
    NEUROLOGIA, 2019, 34 (08): : 546 - 547
  • [46] Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease: Intermediate or axonal?
    Berciano, Jose
    Garcia, Antonio
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2019, 24 (01) : 161 - 161
  • [47] Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease
    Barreda Fierro, Renee
    Herrera Mora, Patricia
    Carlos Zenteno, Juan
    Villarroel Cortes, Camilo E.
    NEUROMUSCULAR DISORDERS, 2020, 30 (12) : 986 - 990
  • [48] Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations
    Funalot, Benoit
    Magdelaine, Corinne
    Sturtz, Franck
    Ouvrier, Robert
    Vallat, Jean-Michel
    BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE, 2009, 193 (01): : 151 - 160
  • [49] A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease
    Santoro, L
    Manganelli, F
    Di Maria, E
    Bordo, D
    Cassandrini, D
    Ajmar, F
    Mandich, P
    Bellone, E
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (02): : 262 - 265
  • [50] A novel mutation of GDAP1 associated with severe form of Charcot-Marie-Tooth disease
    Benslimane, N.
    Miressi, F.
    Magdelaine, C.
    Faye, P.
    Sturtz, F.
    Favreau, F.
    Lia, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 880 - 880
12345