Mutations in mitofusin 2 are a major cause for autosomal dominant axonal Charcot-Marie-Tooth neuropathy

被引:0
|
作者
Claeys, K
Verhoeven, K
Züchner, S
Schröder, JM
Vance, JM
Timmerman, V
De Jonghe, P
机构
[1] Univ Antwerp VIB, Dept Mol Genet, B-2020 Antwerp, Belgium
[2] Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC USA
[3] Rhein Westfal TH Aachen, Univ Hosp, Dept Neuropathol, D-5100 Aachen, Germany
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:16 / 17
页数:2
相关论文
共 50 条
  • [21] MUTATIONS IN MORC2 GENE CAUSE AXONAL CHARCOT-MARIE-TOOTH DISEASE
    Sancho, P.
    Lupo, V
    Sevilla, T.
    Vilchez, J. J.
    Palau, F.
    Chrast, R.
    Espinos, C.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 297 - 297
  • [22] SCO2 MUTATIONS CAUSE AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE
    Saade, D.
    Pereira, C.
    Shon, E.
    Moraes, C.
    Zuchner, S.
    Shy, M.
    Rebelo, A.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 373 - 373
  • [23] Autosomal recessive Charcot-Marie-Tooth Neuropathy (ARCMT)
    Birouk, N.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 285 : S34 - S35
  • [24] Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family
    Berghoff, Corinna
    Berghoff, Martin
    Leal, Alejandro
    Morera, Bernal
    Contreras, Carlos
    Barrantes, Ramiro
    Rautenstrauss, Bernd
    Del Valle, Gerardo
    Heuss, Dieter
    NEUROLOGICAL RESEARCH, 2009, 31 (03) : 283 - 288
  • [25] Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
    Ionasescu, V
    Searby, C
    Sheffield, VC
    Roklina, T
    Nishimura, D
    Ionasescu, R
    HUMAN MOLECULAR GENETICS, 1996, 5 (09) : 1373 - 1375
  • [26] AXONAL CHARCOT-MARIE-TOOTH (CMT): MUTATIONS AND POLYMORPHISMS IN THE MITOFUSIN-2 GENE (MFN2)
    Taioli, F.
    Ferrarini, M.
    Cavallaro, T.
    Ferrari, S.
    Fabrizi, G. M.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2013, 18 : 31 - 31
  • [27] NOVEL NEFH MUTATIONS AS A CAUSE OF AN AUTOSOMAL AXONAL FORM OF CHARCOT-MARIE-TOOTH DISEASE WITH PROXIMAL MUSCLE INVOLVEMENT
    Delorme, C.
    Jacquier, A.
    Morales-Juntas, R.
    Zuchner, S.
    Sole, G.
    Schaeffer, L.
    Stojkovic, T.
    Latour, P.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 270 - 271
  • [28] MITOFUSIN 2 GENE MUTATIONS IN A TURKISH CHARCOT-MARIE-TOOTH DISEASE COHORT
    Candayan, A.
    Sivaci, M.
    Parman, Y.
    Battaloglu, E.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 242 - 242
  • [29] Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease
    Ronkko, Julius
    Molchanova, Svetlana
    Revah-Politi, Anya
    Pereira, Elaine M.
    Auranen, Mari
    Toppila, Jussi
    Kvist, Jouni
    Ludwig, Anastasia
    Neumann, Julika
    Bultynck, Geert
    Humblet-Baron, Stephanie
    Liston, Adrian
    Paetau, Anders
    Rivera, Claudio
    Harms, Matthew B.
    Tyynismaa, Henna
    Ylikallio, Emil
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2020, 7 (10): : 1962 - 1972
  • [30] Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease
    Ronkko, Julius
    Molchanova, Svetlana
    Revah-Politi, Anya
    Pereira, Elaine
    Auranen, Mari
    Toppila, Jussi
    Kvist, Jouni
    Ludwig, Anastasia
    Neumann, Julika
    Humblet-Baron, Stephanie
    Bultynck, Geert
    Liston, Adrian
    Patau, Anders
    Rivera, Claudio
    Harms, Matthew
    Tyynismaa, Henna
    Ylikallio, Emil
    NEUROMUSCULAR DISORDERS, 2020, 30 : S167 - S168