{"title":"“1例伴有急性间歇性卟啉症的MT-TL1基因m.3243A>G变异的MELAS”","authors":"Josef Finsterer","doi":"10.3988/jcn.2022.18.5.597","DOIUrl":null,"url":null,"abstract":"a 23-year-old male with mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome due to the m.3243A>G variant. The patient manifested phenotypically with epilepsy, quadriparesis, wasting, generalized hypotonia, bilateral facial palsy, dysarthria, dysphagia, anemia, lactic ac-idosis, polyneuropathy, and abdominal pain. The patient was initially suspected as having acute intermittent porphyria (AIP), but the 4.5-h sunlight test produced normal findings. The study is attractive, but it","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":" ","pages":"597-598"},"PeriodicalIF":0.0000,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/75/8f/jcn-18-597.PMC9444556.pdf","citationCount":"1","resultStr":"{\"title\":\"Comments on \\\"A Case of MELAS With the m.3243A>G Variant of the MT-TL1 Gene Mimicking Acute Intermittent Porphyria\\\".\",\"authors\":\"Josef Finsterer\",\"doi\":\"10.3988/jcn.2022.18.5.597\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"a 23-year-old male with mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome due to the m.3243A>G variant. The patient manifested phenotypically with epilepsy, quadriparesis, wasting, generalized hypotonia, bilateral facial palsy, dysarthria, dysphagia, anemia, lactic ac-idosis, polyneuropathy, and abdominal pain. The patient was initially suspected as having acute intermittent porphyria (AIP), but the 4.5-h sunlight test produced normal findings. The study is attractive, but it\",\"PeriodicalId\":324902,\"journal\":{\"name\":\"Journal of Clinical Neurology (Seoul, Korea)\",\"volume\":\" \",\"pages\":\"597-598\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/75/8f/jcn-18-597.PMC9444556.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical Neurology (Seoul, Korea)\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3988/jcn.2022.18.5.597\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Neurology (Seoul, Korea)","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3988/jcn.2022.18.5.597","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Comments on "A Case of MELAS With the m.3243A>G Variant of the MT-TL1 Gene Mimicking Acute Intermittent Porphyria".
a 23-year-old male with mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome due to the m.3243A>G variant. The patient manifested phenotypically with epilepsy, quadriparesis, wasting, generalized hypotonia, bilateral facial palsy, dysarthria, dysphagia, anemia, lactic ac-idosis, polyneuropathy, and abdominal pain. The patient was initially suspected as having acute intermittent porphyria (AIP), but the 4.5-h sunlight test produced normal findings. The study is attractive, but it
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