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

页码：925 / 927

页数：3

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