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    ASIA unversity > 醫學暨健康學院 > 期刊論文 >  Item 310904400/6598


    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/6598


    Title: Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II
    Authors: Lei Wan;Cheng-Chun Lee;Chin-Moo Hsu;Hwu WL;Yang CC;Chang-Hai Tsai;Fuu-Jen Tsai
    Date: 2008-05
    Issue Date: 2009-12-23 14:20:52 (UTC+8)
    Publisher: Asia University
    Abstract: Glycogen storage disease type II is an autosomal recessive muscle disorder due to deficiency of lysosomal acid α-glucosidase and the resulting intralysosomal accumulation of glycogen. We found six novel mutations in three Spanish classic infantile onset glycogen storage disease type II patients with involvement of both cardiac and skeletal muscle; three missense mutations (G219R, E262K, M408V), a nonsense mutation (Y191X), a donor splice site mutation (IVS18 +2gt>ga) and an in frame deletion of an asparagine residue (nt1408–1410). The missense mutations were not found in 100 normal chromosomes and therefore are not normal polymorphic variants. The splice site mutation was subsequently detected in an additional ‘Spanish’ infantile onset glycogen storage disease type II patient from El Salvador. Further studies will be required to determine if the IVS18 +2gt>ga splice site mutation might in fact be a relatively common Spanish mutation. Mutations among Spanish glycogen storage disease type II patients appear to be genetically heterogeneous and differ from common mutations in neighboring countries.
    Relation: JOURNAL OF NEUROLOGY
    Appears in Collections:[醫學暨健康學院] 期刊論文

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