A woman with seizure, disturbed gait, and altered mental status - Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (the MELAS syndrome).

被引:15
作者
Dickerson, BC [1 ]
Holtzman, D
Grant, PE
Tian, D
Walsh, R
Harris, NL
机构
[1] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA
[2] Massachusetts Gen Hosp, Dept Pediat, Boston, MA 02114 USA
[3] Massachusetts Gen Hosp, Dept Radiol, Div Pediat Radiol, Boston, MA 02114 USA
[4] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA
[5] Brigham & Womens Hosp, Dept Neurol, Div Cognit & Behav Neurol, Boston, MA 02115 USA
[6] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA
[7] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA
[8] Harvard Univ, Sch Med, Dept Radiol, Boston, MA 02115 USA
关键词
D O I
10.1056/NEJMcpc059032
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:2271 / 2280
页数:10
相关论文
共 37 条
[1]   Current classification of mitochondrial disorders [J].
Andreu, AL ;
DiMauro, S .
JOURNAL OF NEUROLOGY, 2003, 250 (12) :1403-1406
[2]   Seizures and epilepsy after ischemic stroke [J].
Camilo, O ;
Goldstein, LB .
STROKE, 2004, 35 (07) :1769-1775
[3]  
Chinnery PF, 2000, ANN NEUROL, V48, P188, DOI 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.3.CO
[4]  
2-G
[5]   Epidemiology and treatment of mitochondrial disorders [J].
Chinnery, PF ;
Turnbull, DM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 106 (01) :94-101
[6]   The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency [J].
Chol, M ;
Lebon, S ;
Bénit, P ;
Chretien, D ;
de Lonlay, P ;
Goldenberg, A ;
Odent, S ;
Hertz-Pannier, L ;
Vincent-Delorme, C ;
Cormier-Daire, V ;
Rustin, P ;
Rötig, A ;
Munnich, A .
JOURNAL OF MEDICAL GENETICS, 2003, 40 (03) :188-191
[7]   NPS@:: Network Protein Sequence Analysis [J].
Combet, C ;
Blanchet, C ;
Geourjon, C ;
Deléage, G .
TRENDS IN BIOCHEMICAL SCIENCES, 2000, 25 (03) :147-150
[8]  
Corona P, 2001, ANN NEUROL, V49, P106, DOI 10.1002/1531-8249(200101)49:1<106::AID-ANA16>3.0.CO
[9]  
2-T
[10]   A 13-year-old girl with a relapsing-remitting neurologic disorder - Syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). [J].
Dashe, JF ;
Gonzalez, RG ;
Boyer, PJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1998, 339 (26) :1914-1923