A NOVEL MTDNA POINT MUTATION IN MATERNALLY INHERITED CARDIOMYOPATHY

被引：92

作者：

CASALI, C

SANTORELLI, FM

DAMATI, G

BERNUCCI, P

DEBIASE, L

DIMAURO, S

机构：

[1] UNIV ROMA LA SAPIENZA,IST CLIN MALATTIE NERVOSE & MENTALI,ROME,ITALY

[2] UNIV ROMA LA SAPIENZA,DEPT EXPTL MED,ROME,ITALY

[3] UNIV ROMA LA SAPIENZA,DEPT CARDIAC SURG,ROME,ITALY

[4] COLUMBIA UNIV,DEPT NEUROL,H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY,NEW YORK,NY

[5] UNIV LAQUILA,DEPT EXPTL MED,I-67100 LAQUILA,ITALY

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1995年 / 213卷 / 02期

关键词：

D O I：

10.1006/bbrc.1995.2172

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：

A novel mtDNA mutation at position nt. 4300 in the tRNA(Ile) gene is associated with hypertrophic cardiomyopathy inherited as a maternal trait. Interestingly, this mutation seems to cause a pure heart disease as opposed to most other mtDNA mutations, which are associated with multisystemic disorders. Hypertrophic cardiomyopathies are genetically heterogeneous, and mtDNA defects should be considered in the differential diagnosis, especially when there is evidence of maternal inheritance. (C) 1995 Academic Press, Inc.

引用

页码：588 / 593

页数：6

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