{"title":"MR Definition of Novel White Matter Disorders","authors":"M. Knaap","doi":"10.1177/19714009090220S112","DOIUrl":null,"url":null,"abstract":"stem. The cerebellar white matter usually has a mildly abnormal signal intensity without swelling. The clini- cal picture is characterized by macrocephaly within the first year of life. There is a delayed onset of motor dete- rioration, dominated by cerebellar ataxia. The disease has an autosomal recessive mode of inheritance. Our genetic linkage study resulted in the identification of a gene for the disease: MLC1 4","PeriodicalId":314764,"journal":{"name":"Rivista Di Neuroradiologia","volume":"40 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2009-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rivista Di Neuroradiologia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/19714009090220S112","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
stem. The cerebellar white matter usually has a mildly abnormal signal intensity without swelling. The clini- cal picture is characterized by macrocephaly within the first year of life. There is a delayed onset of motor dete- rioration, dominated by cerebellar ataxia. The disease has an autosomal recessive mode of inheritance. Our genetic linkage study resulted in the identification of a gene for the disease: MLC1 4
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