A NOVEL MTDNA POINT MUTATION IN MATERNALLY INHERITED CARDIOMYOPATHY
A NOVEL MTDNA POINT MUTATION IN MATERNALLY INHERITED CARDIOMYOPATHY
复制标题
DOI：
10.1006/bbrc.1995.2172
复制
发表时间：
1995-08-15
影响因子：
3.1
通讯作者：
DIMAURO, S
中科院分区：
文献类型：
--
作者：
CASALI, C;SANTORELLI, FM;DIMAURO, S
nt位置处的新mtDNA突变。 tRNA(Ile) 基因中的 4300 与母体遗传性状肥厚型心肌病相关。有趣的是，与大多数其他与多系统疾病相关的 mtDNA 突变相反，这种突变似乎会导致纯粹的心脏病。肥厚型心肌病具有遗传异质性，鉴别诊断时应考虑线粒体DNA缺陷，尤其是有母系遗传证据时。 (C) 1995 学术出版社
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.