Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
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患有 Pelizaeus-Merzbacher 病迹象的女孩是蛋白脂质蛋白基因外显子 2 突变的杂合子。
DOI：
10.1002/ajmg.1320550402
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
S. Dlouhy
中科院分区：
文献类型：
--
作者：
M. E. Hodes;William DeMyer;Victoria M. Pratt;Mary K. Edwards;S. Dlouhy
我们研究了一名具有 Pelizaeus-Merzbacher 病 (PMD) 临床症状的女婴以及选定的亲属，该婴儿的蛋白脂质蛋白基因 (PLP) 外显子 2 存在家族性突变 (C41-->T)。虽然该孕妇的携带者母亲和祖母目前神经系统正常，大脑 T2 磁共振成像 (MRI) 也正常，但婴儿的神经系统图像、MRI 和大脑听觉诱发反应 (BAER) 与该诊断一致。这里提供的数据表明，PMD 可能发生在携带 PLP 基因突变的女性中。我们对该患者、她的母亲和祖母以及先前报道的家庭的 MRI 的经验 [Pratt 等人：Am J Med Genet 38:136-139, 1991] 表明分子遗传分析而不是 MRI 是携带者检测的适当方法。
We studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41-->T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show normal T2 magnetic resonance imaging (MRI) of the brain, the infant has a neurological picture, MRIs, and brain auditory evoked response (BAER) consistent with that diagnosis. The data here presented show that PMD can occur in females carrying a mutation in the PLP gene. Our experience with the MRIs of this patient, her mother and grandmother, and those of a previously reported family [Pratt et al.: Am J Med Genet 38:136-139, 1991] show that molecular genetic analysis and not MRI is the appropriate means for carrier detection.
X 连锁 Pelizaeus-Merzbacher 病家系中蛋白脂质蛋白基因 (PLP) 完全缺失。
影响因子：
9.8
作者：
Raskind,WH;Williams,CA;Hudson,LD;Bird,TD
通讯作者：
Bird,TD