A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs

被引：16

作者：

Ajroud-Driss, S. ^{[1
]}

Fecto, F. ^{[1
]}

Ajroud, K. ^{[1
]}

Yang, Y. ^{[1
]}

Donkervoort, S. ^{[1
]}

Siddique, N. ^{[1
]}

Siddique, T. ^{[1
]}

机构：

[1] Northwestern Univ, Davee Dept Neurol & Clin Neurosci, Feinberg Sch Med, Chicago, IL 60611 USA

来源：

NEUROGENETICS | 2009年 / 10卷 / 04期

关键词：

CHARCOT-MARIE-TOOTH; PERONEAL MUSCULAR-ATROPHY; PYRAMIDAL FEATURES; MITOFUSIN-2; PHENOTYPES; NEUROPATHY;

D O I：

10.1007/s10048-009-0188-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

[No abstract available]

引用

收藏

页码：359 / 361

页数：3

相关论文

共 10 条

[1]

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation [J].

Auer-Grumbach, M ;

Schlotter-Weigel, B ;

Lochmüller, H ;

Strobl-Wildemann, G ;

Auer-Grumbach, P ;

Fischer, R ;

Offenbacher, H ;

Bernhard, E ;

Robl, T ;

Hartl, G ;

Hartung, HP ;

Wagner, M ;

Windpassinger, C .

ANNALS OF NEUROLOGY, 2005, 57 (03) :415-424

[2]

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations [J].

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

[3]

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation [J].

Del Bo, R ;

Locatelli, F ;

Corti, S ;

Scarlato, M ;

Ghezzi, S ;

Prelle, A ;

Fagiolari, G ;

Moggio, M ;

Carpo, M ;

Bresolin, N ;

Comi, GP .

NEUROLOGY, 2006, 66 (05) :752-754

[4]

LOWER MOTOR AND PRIMARY SENSORY NEURON DISEASES WITH PERONEAL MUSCULAR ATROPHY .2. NEUROLOGIC GENETIC AND ELECTROPHYSIOLOGIC FINDINGS IN VARIOUS NEURONAL DEGENERATIONS [J].

DYCK, PJ ;

LAMBERT, EH .

ARCHIVES OF NEUROLOGY, 1968, 18 (06) :619-&

[5]

PERONEAL MUSCULAR-ATROPHY WITH PYRAMIDAL FEATURES [J].

HARDING, AE ;

THOMAS, PK .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1984, 47 (02) :168-172

[6]

Autosomal dominant juvenile amyotrophic lateral sclerosis [J].

Rabin, BA ;

Griffin, JW ;

Crain, BJ ;

Scavina, M ;

Chance, PF ;

Cornblath, DR .

BRAIN, 1999, 122 :1539-1550

[7]

CMT with pyramidal features [J].

Vucic, S ;

Kennerson, M ;

Zhu, D ;

Miedema, E ;

Kok, C ;

Nicholson, GA .

NEUROLOGY, 2003, 60 (04) :696-699

[8]

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous:: Families with and without MFN2 mutations [J].

Zhu, D ;

Kennerson, ML ;

Walizada, G ;

Zücher, S ;

Vance, JM ;

Nicholson, GA .

NEUROLOGY, 2005, 65 (03) :496-497

[9]

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A [J].

Züchner, S ;

Mersiyanova, IV ;

Muglia, M ;

Bissar-Tadmouri, N ;

Rochelle, J ;

Dadali, EL ;

Zappia, M ;

Nelis, E ;

Patitucci, A ;

Senderek, J ;

Parman, Y ;

Evgrafov, O ;

De Jonghe, P ;

Takahashi, Y ;

Tsuji, S ;

Pericak-Vance, MA ;

Quattrone, A ;

Battologlu, E ;

Polyakov, AV ;

Timmerman, V ;

Schröder, JM ;

Vance, JM .

NATURE GENETICS, 2004, 36 (05) :449-451

[10]

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 [J].

Züchner, S ;

De Jonghe, P ;

Jordanova, A ;

Claeys, KG ;

Guergueltcheva, V ;

Cherninkova, S ;

Hamilton, SR ;

Van Stavern, G ;

Krajewski, KM ;

Stajich, J ;

Tournev, I ;

Verhoeven, K ;

Langerhorst, CT ;

de Visser, M ;

Baas, F ;

Bird, T ;

Timmerman, V ;

Shy, M ;

Vance, JM .

ANNALS OF NEUROLOGY, 2006, 59 (02) :276-281