Driscoll P F, Larsen P D, Gruber A B
Arch Neurol. 1987 Sep;44(9):971-3. doi: 10.1001/archneur.1987.00520210065021.
Three familial cases of MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke) have been reported. We describe a family with four normal sons and an affected mother, son, and daughter. Although mitochondrial inheritance has been proposed, autosomal and X-linked dominant patterns are also possible. This family also illustrates the variability of expression of MELAS. The proband has the full syndrome, while the mother and daughter manifested less severe findings. All three did not develop symptoms until adulthood.
已报告了3例线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）的家族病例。我们描述了一个家庭，其中有4个正常儿子以及1名患病的母亲、儿子和女儿。尽管有人提出线粒体遗传，但常染色体和X连锁显性模式也是可能的。这个家庭也说明了MELAS临床表现的变异性。先证者具有完整的综合征表现，而母亲和女儿的症状则较轻。这三人直到成年才出现症状。
