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：

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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。