佩利措伊斯-梅茨巴赫病：蛋白脂蛋白（PLP）基因第6外显子中的一个点突变。
Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
作者信息
Pratt V M, Dlouhy S R, Hodes M E
出版信息
Clin Genet. 1995 Feb;47(2):99-100. doi: 10.1111/j.1399-0004.1995.tb03932.x.
Abstract
Pelizaeus-Merzbacher disease has been known since 1885. It is characterized by severe dysmyelination of the central nervous system. We describe a new mutation in exon 6 of the proteolipid protein gene in a 9-year-old boy with severe connatal Pelizaeus-Merzbacher disease.
摘要
佩利措伊斯-梅茨巴赫病自1885年以来就为人所知。其特征是中枢神经系统严重髓鞘形成异常。我们描述了一名患有严重先天性佩利措伊斯-梅茨巴赫病的9岁男孩的蛋白脂蛋白基因第6外显子中的一个新突变。
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