Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit

被引:11
作者
Pagniez-Mammeri, Helene [2 ,4 ]
Landrieu, Pierre [3 ]
Legrand, Alain [2 ,4 ]
Slama, Abdelhamid [1 ,4 ]
机构
[1] Hop Bicetre, AP HP, Lab Biochim 1, F-94275 Le Kremlin Bicetre, France
[2] Univ Paris 05, Lab Biochim Metab & Clin EA 3617, Fac Sci Pharmaceut & Biol, Paris, France
[3] Hop Bicetre, APHP, Serv Neuropediatrie, F-94275 Le Kremlin Bicetre, France
[4] Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France
关键词
DEFICIENCIES;
D O I
10.1016/j.ymgme.2010.07.005
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:297 / 298
页数:2
相关论文
共 5 条
[1]   Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency [J].
Bénit, P ;
Chretien, D ;
Kadhom, N ;
de Lonlay-Debeney, P ;
Cormier-Daire, V ;
Cabral, A ;
Peudenier, S ;
Rustin, P ;
Munnich, A ;
Rötig, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1344-1352
[2]   Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts [J].
Chretien, D ;
Bénit, P ;
Chol, M ;
Lebon, S ;
Rötig, A ;
Munnich, A ;
Rustin, P .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2003, 301 (01) :222-224
[3]   Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies [J].
Hoefs, Saskia J. G. ;
Skjeldal, Ola H. ;
Rodenburg, Richard J. ;
Nedregaard, Bard ;
van Kaauwen, Edwin P. M. ;
Spiekerkoetter, Ute ;
von Kleist-Retzow, Juergen-Christoph ;
Smeitink, Jan A. M. ;
Nijtmans, Leo G. ;
van den Heuvel, Lambert P. .
MOLECULAR GENETICS AND METABOLISM, 2010, 100 (03) :251-256
[4]   Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects [J].
Pagniez-Mammeri, Helene ;
Lombes, Anne ;
Brivet, Michele ;
Ogier-de Baulny, Helene ;
Landrieu, Pierre ;
Legrand, Alain ;
Slama, Abdelhamid .
MOLECULAR GENETICS AND METABOLISM, 2009, 96 (04) :196-200
[5]   BIOCHEMICAL AND MOLECULAR INVESTIGATIONS IN RESPIRATORY-CHAIN DEFICIENCIES [J].
RUSTIN, P ;
CHRETIEN, D ;
BOURGERON, T ;
GERARD, B ;
ROTIG, A ;
SAUDUBRAY, JM ;
MUNNICH, A .
CLINICA CHIMICA ACTA, 1994, 228 (01) :35-51