M. Mansour, R. Aoun, Maroua Melliti, A. Kacem, Meriem Mselmani, R. Mrissa, J. Zaouali
{"title":"A First Case of Adrenomyeloneuropathy with Mutation R152C: A Case Report with Literature Review","authors":"M. Mansour, R. Aoun, Maroua Melliti, A. Kacem, Meriem Mselmani, R. Mrissa, J. Zaouali","doi":"10.37421/2165-7920.2021.11.1445","DOIUrl":null,"url":null,"abstract":"X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder responsible of accumulation of Very Long Chain Fatty Acids (VLCFAs) which accumulate in the central nervous system, adrenal cortex and testes. Various mutations have been identified, the X-ALD mutation database catalogs 2707 (last updated on 04-03-2019) with 61% of missense mutations. This paper reports on a first case of AMN with R152C mutation in ABCD1 gene.","PeriodicalId":73664,"journal":{"name":"Journal of clinical case reports","volume":"11 1","pages":"1-2"},"PeriodicalIF":0.0000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of clinical case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.37421/2165-7920.2021.11.1445","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder responsible of accumulation of Very Long Chain Fatty Acids (VLCFAs) which accumulate in the central nervous system, adrenal cortex and testes. Various mutations have been identified, the X-ALD mutation database catalogs 2707 (last updated on 04-03-2019) with 61% of missense mutations. This paper reports on a first case of AMN with R152C mutation in ABCD1 gene.
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