Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing

被引：15
|
作者：
Shirakawa, K [1 ]
Takahashi, Y [1 ]
Miyajima, H [1 ]
机构：
[1] Hamamatsu Univ Sch Med, Dept Med 1, Hamamatsu, Shizuoka 4313192, Japan
来源：
NEUROLOGY | 2006年 / 66卷 / 06期
关键词：
D O I：
10.1212/01.wnl.0000203500.63884.39
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A 33-year-old man with mental retardation and recurrent myoglobinuria demonstrated a deficiency in the phosphoglycerate kinase 1 (PGK1) activity of his muscles and erythrocytes. His PGK1 gene had intronic G-to-A substitution 5 nucleotides downstream from the normal exon 7 5' splice site (IVS7 + 5 G > A). This novel mutation results in a frame shift due to the insertion of 52 bp of intron 7 in the mature mRNA by aberrant splicing.
引用
收藏
页码：925 / 927
页数：3
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