Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA

被引：90

作者：

Gámez, J

Playán, A

Andreu, AL

Bruno, C

Navarro, C

Cervera, C

Arbós, MA

Schwartz, S

Enriquez, JA

Montoya, J

机构：

[1] Univ Zaragoza, Dept Bioquim & Biol Mol & Celular, E-50013 Zaragoza, Spain

[2] Hosp Gen Valle Hebron, Serv Neurol, Barcelona, Spain

[3] Hosp Gen Valle Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona, Spain

[4] Hosp Meixoeiro, Serv Patol, Vigo, Spain

[5] Columbia Univ, Coll Phys & Surg, Houston Merritt Clin Res Ctr Muscular Dystrophy &, Dept Neurol, New York, NY USA

来源：

NEUROLOGY | 1998年 / 51卷 / 01期

关键词：

D O I：

10.1212/WNL.51.1.258

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe familial multiple symmetric lipomatosis in a pedigree harboring the 8344 mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). The proband showed neuromuscular involvement but lacked the typical manifestations of myoclonic epilepsy and ragged-red fibers disease. The distribution of the mutation was unusual because the proportion of mutated genomes was higher in blood and lipomas than in muscle tissue.

引用

页码：258 / 260

页数：3

共 7 条

[1] MITOCHONDRIAL DYSFUNCTION IN MULTIPLE SYMMETRICAL LIPOMATOSIS [J].