Spinal muscular atrophy and mitochondrial DNA depletion -: Response to Berber et al. (2003) Acta Neuropathol 105:245-251

被引：6

作者：

Mancuso, M ^{[1
]}

Filosto, M ^{[1
]}

Hirano, M ^{[1
]}

DiMauro, S ^{[1
]}

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

来源：

ACTA NEUROPATHOLOGICA | 2003年 / 105卷 / 06期

关键词：

D O I：

10.1007/s00401-003-0699-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：621 / 622

页数：2

共 9 条

[1] DEPLETION OF MUSCLE MITOCHONDRIAL-DNA IN AIDS PATIENTS WITH ZIDOVUDINE-INDUCED MYOPATHY [J].

ARNAUDO, E ;

DALAKAS, M ;

SHANSKE, S ;

MORAES, CT ;

DIMAURO, S ;

SCHON, EA .

LANCET, 1991, 337 (8740) :508-510

[2] Severe depletion of mitochondrial DNA in spinal muscular atrophy [J].

Berger, A ;

Mayr, JA ;

Meierhofer, D ;

Fötschl, U ;

Bittner, R ;

Budka, H ;

Grethen, C ;

Huemer, M ;

Kofler, B ;

Sperl, W .

ACTA NEUROPATHOLOGICA, 2003, 105 (03) :245-251

[3] Mitochondrial DNA depletion -: Mutations in thymidine kinase gene with myopathy and SMA [J].

Mancuso, M ;

Salviati, L ;

Sacconi, S ;

Otaegui, D ;

Camaño, P ;

Marina, A ;

Bacman, S ;

Moraes, CT ;

Carlo, JR ;

Garcia, M ;

Garcia-Alvarez, M ;

Monzon, L ;

Naini, AB ;

Hirano, M ;

Bonilla, E ;

Taratuto, AL ;

DiMauro, S ;

Vu, TH .

NEUROLOGY, 2002, 59 (08) :1197-1202

[4] The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA [J].

Mandel, H ;

Szargel, R ;

Labay, V ;

Elpeleg, O ;

Saada, A ;

Shalata, A ;

Anbinder, Y ;

Berkowitz, D ;

Hartman, C ;

Barak, M ;

Eriksson, S ;

Cohen, N .

NATURE GENETICS, 2001, 29 (03) :337-341

[5]

MORAES CT, 1991, AM J HUM GENET, V48, P492

[6] Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder [J].

Nishino, I ;

Spinazzola, A ;

Hirano, M .

SCIENCE, 1999, 283 (5402) :689-692

[7] Mitochondrial myopathy simulating spinal muscular atrophy [J].

Pons, R ;

Andreetta, F ;

Wang, CH ;

Vu, TH ;

Bonilla, E ;

DiMauro, S ;

DeVivo, DC .

PEDIATRIC NEUROLOGY, 1996, 15 (02) :153-158

[8] Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy [J].

Saada, A ;

Shaag, A ;

Mandel, H ;

Nevo, Y ;

Eriksson, S ;

Elpeleg, O .

NATURE GENETICS, 2001, 29 (03) :342-344

[9] Clinical manifestations of mitochondrial DNA depletion [J].

Vu, TH ;

Sciacco, M ;

Tanji, K ;

Nichter, C ;

Bonilla, E ;

Chatkupt, S ;

Maertens, P ;

Shanske, S ;

Mendell, J ;

Koenigsberger, MR ;

Sharer, L ;

Schon, EA ;

DiMauro, S ;

DeVivo, DC .

NEUROLOGY, 1998, 50 (06) :1783-1790

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