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Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation.
Neurology Genetics ( IF 3.0 ) Pub Date : 2020-08-01 , DOI: 10.1212/nxg.0000000000000442
Rei Yasuda 1 , Tomokatsu Yoshida 1 , Ikuko Mizuta 1 , Masashi Watanabe 1 , Masakazu Nakano 1 , Ryuichi Sato 1 , Yuichi Tokuda 1 , Natsue Omi 1 , Norio Sakai 1 , Masanori Nakagawa 1 , Kei Tashiro 1 , Toshiki Mizuno 1
Affiliation  

LAMB1 encodes laminin subunit beta 1, a constituent of the extracellular matrix glycoprotein of basement membranes.1 Mutations of LAMB1 have been reported in patients with congenital or infantile- to childhood-onset leukoencephalopathy and severe developmental retardation.2,3 We report an adulthood-onset case with mild leukoencephalopathy and a novel homozygous LAMB1 missense mutation. Our findings expand the clinical spectrum of LAMB1-related disorder.



中文翻译:

具有纯合型LAMB1错义突变的成人发作性白质脑病。

LAMB1编码层粘连蛋白亚基β1,它是基底膜细胞外基质糖蛋白的组成部分。1在先天性或婴儿至儿童期发作的白质脑病和严重发育迟缓的患者中,已有LAMB1突变的报道。2,3我们报道了一个轻度白脑病成年发病病例和一个新的纯合的LAMB1错义突变。我们的发现扩大了LAMB1相关疾病的临床范围。

更新日期:2020-06-02
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