Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult.
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult.
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DOI：
10.1136/practneurol-2014-000853
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发表时间：
2014-12-01
影响因子：
2.8
通讯作者：
Turner, Martin R
中科院分区：
文献类型：
--
作者：
Aurangzeb, Sidra;Vale, Thomas;Turner, Martin R
讨论 线粒体疾病包括一组与线粒体 DNA 或核线粒体维持基因突变相关的异质性疾病。 MELAS 最常见的致病 mtDNA 突变是 m。 3243A>G，在80%的病例中发现。 1 m 的患病率。 3243A> G 突变在芬兰成年人口中为每 100000 人中有 10.2 例，但基于经验证的突变携带者的所有一级母系亲属也都携带这种突变的假设，患病率增加到每 100000 人中有 16 例以上。2 最近的基于人群的研究表明
DISCUSSIONMitochondrial disorders comprise a heterogeneous group of disorders linked to mutations in mitochondrial DNA or nuclear mitochondrial maintenance genes. The most common disease-causing mtDNA mutation in MELAS is m. 3243A> G, found in 80% of cases. 1 The prevalence of m. 3243A> G mutation was 10.2 per 100000 in the adult Finnish population, but based on the assumption that all first-degree maternal relatives of a verified mutation carrier also harbour this mutation, prevalence increased to more than 16 per 100 000. 2 Recent population-based studies suggest