DELETION OF MITOCHONDRIAL-DNA IN PATIENTS WITH COMBINED FEATURES OF KEARNS-SAYRE AND MELAS SYNDROMES

被引:72
作者
ZUPANC, ML
MORAES, CT
SHANSKE, S
LANGMAN, CB
CIAFALONI, E
DIMAURO, S
机构
[1] UNIV WISCONSIN,DEPT PEDIAT,MADISON,WI 53706
[2] UNIV WISCONSIN,DEPT NEUROL,MADISON,WI 53706
[3] COLUMBIA PRESBYTERIAN MED CTR,DEPT GENET & DEV,NEW YORK,NY 10032
[4] COLUMBIA PRESBYTERIAN MED CTR,DEPT NEUROL,NEW YORK,NY 10032
[5] NORTHWESTERN UNIV,DEPT PEDIAT,CHICAGO,IL 60611
关键词
D O I
10.1002/ana.410290619
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A 9-year-old girl and an 11-year-old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged-red fibers and Southern analysis demonstrated a distinct heteroplasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNA(Leu(UUR)) gene recently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These children had combined features of Kearns-Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression.
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页码:680 / 683
页数:4
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