Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

被引:29
作者
Casali, C
Fabrizi, GM
Santorelli, FM
Colazza, G
Villanova, M
Dotti, MT
Cavallaro, T
Cardaioli, E
Battisti, C
Manneschi, L
DiGennaro, GC
Fortini, D
Spadaro, M
Morocutti, C
Federico, A
机构
[1] Univ La Sapienza, Inst Neurol, Rome, Italy
[2] Univ Siena, Ctr Ric Diag Terapia & Prevenz Neurohandicap, Unit Operat Malattie Neurometab, I-53100 Siena, Italy
[3] Neurol Inst C Mondino, Pavia, Italy
[4] NEUROMED, Pozzilli, IS, Japan
关键词
D O I
10.1212/WNL.52.5.1103
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1103 / 1104
页数:2
相关论文
共 7 条
[1]   MYOCLONUS EPILEPSY AND RAGGED-RED FIBERS (MERRF) .1. A CLINICAL, PATHOLOGICAL, BIOCHEMICAL, MAGNETIC-RESONANCE SPECTROGRAPHIC AND POSITRON EMISSION TOMOGRAPHIC STUDY [J].
BERKOVIC, SF ;
CARPENTER, S ;
EVANS, A ;
KARPATI, G ;
SHOUBRIDGE, EA ;
ANDERMANN, F ;
MEYER, E ;
TYLER, JL ;
DIKSIC, M ;
ARNOLD, D ;
WOLFE, LS ;
ANDERMANN, E ;
HAKIM, AM .
BRAIN, 1989, 112 :1231-1260
[2]   Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis [J].
Campos, Y ;
Martin, MA ;
Navarro, C ;
Gordo, P ;
Arenas, J .
NEUROLOGY, 1996, 47 (04) :1012-1014
[3]   MULTIPLE SYMMETRICAL LIPOMATOSIS - ABNORMALITIES IN COMPLEX-IV AND MULTIPLE DELETIONS IN MITOCHONDRIAL-DNA [J].
KLOPSTOCK, T ;
NAUMANN, M ;
SCHALKE, B ;
BISCHOF, F ;
SEIBEL, P ;
KOTTLORS, M ;
ECKERT, P ;
REINERS, K ;
TOYKA, KV ;
REICHMANN, H .
NEUROLOGY, 1994, 44 (05) :862-866
[4]  
Ozawa M, 1997, MUSCLE NERVE, V20, P271, DOI 10.1002/(SICI)1097-4598(199703)20:3<271::AID-MUS2>3.0.CO
[5]  
2-8
[6]  
Santorelli FM, 1996, AM J HUM GENET, V58, P933
[7]  
ZANCANARO C, 1990, LAB INVEST, V63, P253