Maike F Dohrn, Danique Beijer, Lejla Mulahasanovic
{"title":"在一个家族中,杂合子 POLG 变体 Ser1181Asn 与常染色体显性神经肌病有关,但没有线粒体综合征的其他特殊表现。","authors":"Maike F Dohrn, Danique Beijer, Lejla Mulahasanovic","doi":"10.1186/s42466-022-00197-6","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19169,"journal":{"name":"Neurological Research and Practice","volume":" ","pages":"34"},"PeriodicalIF":0.0000,"publicationDate":"2022-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272550/pdf/","citationCount":"0","resultStr":"{\"title\":\"Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome.\",\"authors\":\"Maike F Dohrn, Danique Beijer, Lejla Mulahasanovic\",\"doi\":\"10.1186/s42466-022-00197-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19169,\"journal\":{\"name\":\"Neurological Research and Practice\",\"volume\":\" \",\"pages\":\"34\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-07-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272550/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurological Research and Practice\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s42466-022-00197-6\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurological Research and Practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s42466-022-00197-6","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome.