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Neurology. 2006 Mar 28;66(6):925-7.

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

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  • 1First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.


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.

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