{"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":"10 3","pages":"188-189"},"PeriodicalIF":1.5000,"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}
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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
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