Casali C, Santorelli F M, D'Amati G, Bernucci P, DeBiase L, DiMauro S
Istituto di Clinica delle Malattie Nervose e Mentali, La Sapienza University, Rome, Italy.
Biochem Biophys Res Commun. 1995 Aug 15;213(2):588-93. doi: 10.1006/bbrc.1995.2172.
A novel mtDNA mutation at position nt. 4300 in the tRNAIle 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.
位于tRNAIle基因第4300位核苷酸处的一种新型线粒体DNA（mtDNA）突变与作为母系性状遗传的肥厚型心肌病相关。有趣的是，与大多数其他与多系统疾病相关的mtDNA突变不同，这种突变似乎仅导致单纯的心脏疾病。肥厚型心肌病在遗传上具有异质性，在鉴别诊断中应考虑线粒体DNA缺陷，尤其是当有母系遗传证据时。
