ANT1, twinkle, POLG, and TP - New genes open our eyes to ophthalmoplegia

被引：52

作者：

Hirano, M ^{[1
]}

DiMauro, S ^{[1
]}

机构：

[1] Columbia Presbyterian Med Ctr, Dept Neurol, New York, NY 10032 USA

来源：

NEUROLOGY | 2001年 / 57卷 / 12期

关键词：

D O I：

10.1212/WNL.57.12.2163

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：2163 / 2165

页数：3

共 16 条

[1]

[Anonymous], 2001, Neuromuscul Disord, V11, P508

[2] Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy [J].

Bohlega, S ;

Tanji, K ;

Santorelli, FM ;

Hirano, M ;

alJishi, A ;

DiMauro, S .

NEUROLOGY, 1996, 46 (05) :1329-1334

[3] Congenital myasthenic syndromes - New insights from molecular genetic and patch-clamp studies [J].

Engel, AG ;

Ohno, K ;

Milone, M ;

Sine, SM .

MYASTHENIA GRAVIS AND RELATED DISEASES: DISORDERS OF THE NEUROMUSCULAR JUNCTION, 1998, 841 :140-156

[4]

Hirano M, 2000, BRAIN PATHOL, V10, P451

[5] DELETIONS OF MUSCLE MITOCHONDRIAL-DNA IN PATIENTS WITH MITOCHONDRIAL MYOPATHIES [J].

HOLT, IJ ;

HARDING, AE ;

MORGANHUGHES, JA .

NATURE, 1988, 331 (6158) :717-719

[6] Role of adenine nucleotide translocator 1 in mtDNA maintenance [J].

Kaukonen, J ;

Juselius, JK ;

Tiranti, V ;

Kyttälä, A ;

Zeviani, M ;

Comi, GP ;

Keränen, S ;

Peltonen, L ;

Suomalainen, A .

SCIENCE, 2000, 289 (5480) :782-785

[7]

LESTIENNE P, 1988, LANCET, V1, P885

[8] ATYPICAL CLINICAL PRESENTATIONS ASSOCIATED WITH THE MELAS MUTATION AT POSITION 3243 OF HUMAN MITOCHONDRIAL-DNA [J].

MORAES, CT ;

CIACCI, F ;

SILVESTRI, G ;

SHANSKE, S ;

SCIACCO, M ;

HIRANO, M ;

SCHON, EA ;

BONILLA, E ;

DIMAURO, S .

NEUROMUSCULAR DISORDERS, 1993, 3 (01) :43-50

[9] A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family [J].

Napoli, L ;

Bordoni, A ;

Zeviani, M ;

Hadjigeorgiou, GM ;

Sciacco, M ;

Tiranti, V ;

Terentiou, A ;

Moggio, M ;

Papadimitriou, A ;

Scarlato, G ;

Comi, GP .

NEUROLOGY, 2001, 57 (12) :2295-2298

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

Nishino, I ;

Spinazzola, A ;

Hirano, M .

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

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