Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

被引：353

作者：

Bolino, A

Muglia, M

Conforti, FL

LeGuern, E

Salih, MAM

Georgiou, DM

Christodoulou, K

Hausmanowa-Petrusewicz, I

Mandich, P

Schenone, A

Gambardella, A

Bono, F

Quattrone, A

Devoto, M

Monaco, AP ^{[1
]}

机构：

[1] Wellcome Trust Ctr Human Genet, Oxford, England

[2] Natl Res Council, Inst Expt Med & Biotechnol, Cosenza, Italy

[3] Hop La Pitie Salpetriere, Paris, France

[4] King Saud Univ, Dept Pediat, Riyadh, Saudi Arabia

[5] Cyprus Inst Neurol & Genet, Mol Genet Unit D, Nicosia, Cyprus

[6] Polish Acad Sci, MRC, Neuromuscular Unit, Warsaw, Poland

[7] Univ Genoa, Dipartimento Sci Neurol & Riabilitaz, Genoa, Italy

[8] Univ Genoa, Dipartimento Oncol Biol & Genet, Genoa, Italy

[9] Univ Catanzaro, Inst Neurol, Catanzaro, Italy

来源：

NATURE GENETICS | 2000年 / 25卷 / 01期

关键词：

D O I：

10.1038/75542

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：17 / 19

页数：3

共 13 条

[1] Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15
Ben Othmane, K
Johnson, E
Menold, M
Graham, FL
Ben Hamida, M
Hasegawa, O
Rogala, AD
Ohnishi, A
Pericak-Vance, M
Hentati, F
Vance, JM
[J]. GENOMICS, 1999, 62 (03) : 344 - 349
[2] Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22
Bolino, A
Levy, ER
Muglia, M
Conforti, FL
LeGuern, E
Salih, MAM
Georgiou, DM
Hausmanowa-Petrusewicz, I
Mandich, P
Gambardella, A
Quattrone, A
Devoto, M
Monaco, AP
[J]. GENOMICS, 2000, 63 (02) : 271 - 278
[3] Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
Bolino, A
Brancolini, V
Bono, F
Bruni, A
Gambardella, A
Romeo, G
Quattrone, A
Devoto, M
[J]. HUMAN MOLECULAR GENETICS, 1996, 5 (07) : 1051 - 1054
[4] Association of SET domain and myotubularin-related proteins modulates growth control
Cui, XM
De Vivo, I
Slany, R
Miyamoto, A
Firestein, R
Cleary, ML
[J]. NATURE GENETICS, 1998, 18 (04) : 331 - 337
[5] Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome
Gambardella, A
Muglia, M
Quattrone, A
[J]. BRAIN, 1997, 120 : 2113 - 2114
[6] Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)
Gambardella, A
Bolino, A
Muglia, M
Valentino, P
Bono, F
Oliveri, RL
Sabatelli, M
Brancolini, V
Van Broeckhoven, C
Romeo, G
Devoto, M
Quattrone, A
[J]. NEUROLOGY, 1998, 50 (03) : 799 - 801
[7] Hunter T, 1998, NAT GENET, V18, P303
[8] Kikuno R, 1999, DNA Res, V6, P197, DOI 10.1093/dnares/6.3.197
[9] Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human
Laporte, J
Blondeau, F
Buj-Bello, A
Tentler, D
Kretz, C
Dahl, N
Mandel, JL
[J]. HUMAN MOLECULAR GENETICS, 1998, 7 (11) : 1703 - 1712
[10] A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
Laporte, J
Hu, LJ
Kretz, C
Mandel, JL
Kioschis, P
Coy, JF
Klauck, SM
Poustka, A
Dahl, N
[J]. NATURE GENETICS, 1996, 13 (02) : 175 - 182

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