A CAUCASIAN FAMILY WITH THE 3271-MUTATION IN MITOCHONDRIAL-DNA

被引：17

作者：

MARIE, SKN

GOTO, Y

PASSOSBUENO, MR

ZATZ, M

CARVALHO, AAS

CARVALHO, M

LEVY, JA

PALOU, VB

CAMPIOTTO, S

HORAI, S

NONAKA, I

机构：

[1] UNIV SAO PAULO,INST BIOSCI,DEPT BIOL,SAO PAULO,BRAZIL

[2] NATL INST NEUROSCI,DIV ULTRASTRUCT RES,KODAIRA 187,TOKYO,JAPAN

[3] NATL CTR HOSP MENTAL NERVOUS & MUSCULAR DISORDERS,NCNP,DEPT CHILD NEUROL,KODAIRA,TOKYO,JAPAN

[4] NATL CTR HOSP MENTAL NERVOUS & MUSCULAR DISORDERS,NCNP,DEPT LAB MED,KODAIRA,TOKYO,JAPAN

[5] NATL INST GENET,DEPT HUMAN GENET,MISHIMA,SHIZUOKA 411,JAPAN

来源：

BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY | 1994年 / 52卷 / 02期

关键词：

D O I：

10.1006/bmmb.1994.1045

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The second most common mutation associated with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-hire episodes) in Japan is the 3271 mutation. This mutation was found in a Brazilian family of Portuguese and Italian descent, indicating that this mutation also exists in a race other than Japanese. The propositus had mild clinical manifestations atypical of MELAS, suggesting that patients with the 3271 mutation exhibit heterogeneous phenotypic expression as seen in the 3243 mutation. (C) 1994 Academic Press, Inc.

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页码：136 / 139

页数：4

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