{"title":"PMM-2携带者与线粒体疾病患者的卒中样发作不同。","authors":"Josef Finsterer","doi":"10.1055/s-0043-1771183","DOIUrl":null,"url":null,"abstract":"We read with interest the article by Sreedevi et al who reported the case of a 12-year-old girl with a congenital disorder of glycosylation (CDG) due to the variant c.710C > T in the phosphomannomutase-2 ( PMM2 ) gene. 1 The patient manifested phenotypically with developmental delay, cog-nitive impairment, generalized hypotonia","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348842/pdf/","citationCount":"0","resultStr":"{\"title\":\"Strokelike Episodes in <i>PMM-2</i> Carriers Differ from Those in Mitochondrial Disorders.\",\"authors\":\"Josef Finsterer\",\"doi\":\"10.1055/s-0043-1771183\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We read with interest the article by Sreedevi et al who reported the case of a 12-year-old girl with a congenital disorder of glycosylation (CDG) due to the variant c.710C > T in the phosphomannomutase-2 ( PMM2 ) gene. 1 The patient manifested phenotypically with developmental delay, cog-nitive impairment, generalized hypotonia\",\"PeriodicalId\":40142,\"journal\":{\"name\":\"Global Medical Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2023-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348842/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Global Medical Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0043-1771183\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Global Medical Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0043-1771183","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Strokelike Episodes in PMM-2 Carriers Differ from Those in Mitochondrial Disorders.
We read with interest the article by Sreedevi et al who reported the case of a 12-year-old girl with a congenital disorder of glycosylation (CDG) due to the variant c.710C > T in the phosphomannomutase-2 ( PMM2 ) gene. 1 The patient manifested phenotypically with developmental delay, cog-nitive impairment, generalized hypotonia
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