Goto Y
Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Muscle Nerve Suppl. 1995;3:S107-12. doi: 10.1002/mus.880181422.
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes) is a distinct disorder characterized clinically by repeated strokelike attacks mostly beginning in childhood. We have paid special attention to the blood vessel abnormality seen in most biopsied muscle, in terms of the strokelike episodes in MELAS. The 3243 mutation in 80% of the typical MELAS patients has also been found in patients differing from the MELAS phenotype. Because we have examined muscle biopsies in 94 MELAS or 3243-positive patients, it is worthwhile to summarize the clinical and pathological findings and to prove the discrepancy between phenotype and genotype. This may be a starting point for further discussion of the pathomechanism and so toward further understanding of the disease itself.
线粒体肌病、脑病、乳酸酸中毒伴卒中样发作（MELAS）是一种独特的疾病，临床特征为反复出现的卒中样发作，大多始于儿童期。就MELAS中的卒中样发作而言，我们特别关注了大多数活检肌肉中出现的血管异常情况。在与MELAS表型不同的患者中也发现了80%典型MELAS患者存在的3243突变。由于我们已对94例MELAS或3243阳性患者进行了肌肉活检，因此有必要总结临床和病理结果，并证实表型与基因型之间的差异。这可能是进一步探讨发病机制从而更深入了解该疾病本身的一个起点。
