SIMULTANEOUS MFN2 AND GDAP1 MUTATIONS CAUSE MAJOR MITOCHONDRIAL DEFECTS IN A PATIENT WITH CMT

被引：34

作者：

Cassereau, J.

Casasnovas, C. ^{[1
,2
]}

Gueguen, N.

Malinge, M. -C.

Guillet, V.

Reynier, P.

Bonneau, D.

Amati-Bonneau, P.

Banchs, I. ^{[2
]}

Volpini, V. ^{[2
]}

Procaccio, V.

Chevrollier, A.

机构：

[1] IDIBELL, CIBERNED, Barcelona, Spain

[2] IDIBELL, Genet Diag Ctr Inherited Dis, Barcelona, Spain

来源：

NEUROLOGY | 2011年 / 76卷 / 17期

关键词：

MARIE-TOOTH-DISEASE; COUPLING DEFECT; 2A DISEASE;

D O I：

10.1212/WNL.0b013e318217e77d

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

[No abstract available]

引用

收藏

页码：1524 / 1526

页数：3

相关论文

共 7 条

[1]

Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A [J].

Cartoni, Romain ;

Martinou, Jean-Claude .

EXPERIMENTAL NEUROLOGY, 2009, 218 (02) :268-273

[2]

Phenotypic spectrum of MFN2 mutations in the Spanish population [J].

Casasnovas, C. ;

Banchs, I. ;

Cassereau, J. ;

Gueguen, N. ;

Chevrollier, A. ;

Martinez-Matos, J. A. ;

Bonneau, D. ;

Volpini, V. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (04) :249-256

[3]

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations [J].

Cassereau, Julien ;

Chevrollier, Arnaud ;

Gueguen, Naig ;

Desquiret, Valerie ;

Verny, Christophe ;

Nicolas, Guillaume ;

Dubas, Frederic ;

Amati-Bonneau, Patrizia ;

Reynier, Pascal ;

Bonneau, Dominique ;

Procaccio, Vincent .

EXPERIMENTAL NEUROLOGY, 2011, 227 (01) :31-41

[4]

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K) [J].

Cassereau, Julien ;

Chevrollier, Arnaud ;

Gueguen, Naig ;

Malinge, Marie-Claire ;

Letournel, Franck ;

Nicolas, Guillaume ;

Richard, Laurence ;

Ferre, Marc ;

Verny, Christophe ;

Dubas, Frederic ;

Procaccio, Vincent ;

Amati-Bonneau, Patrizia ;

Bonneau, Dominique ;

Reynier, Pascal .

NEUROGENETICS, 2009, 10 (02) :145-150

[5]

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease [J].

Guillet, Virginie ;

Gueguen, Naig ;

Verny, Christophe ;

Ferre, Marc ;

Homedan, Chadi ;

Loiseau, Dominique ;

Procaccio, Vincent ;

Amati-Bonneau, Patrizia ;

Bonneau, Dominique ;

Reynier, Pascal ;

Chevrollier, Arnaud .

NEUROGENETICS, 2010, 11 (01) :127-133

[6]

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease [J].

Loiseau, Dominique ;

Chevrollier, Arnaud ;

Verny, Christophe ;

Guillet, Virginie ;

Gueguen, Naig ;

de Crescenzo, Marie-Anne Pou ;

Ferre, Marc ;

Malinge, Marie-Claire ;

Guichet, Agnes ;

Nicolas, Guillaume ;

Amati-Bonneau, Patrizia ;

Malthiery, Yves ;

Bonneau, Dominique ;

Reynier, Pascal .

ANNALS OF NEUROLOGY, 2007, 61 (04) :315-323

[7]

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease [J].

Niemann, A ;

Ruegg, M ;

La Padula, V ;

Schenone, A ;

Suter, U .

JOURNAL OF CELL BIOLOGY, 2005, 170 (07) :1067-1078