Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation

被引：25

作者：

Hamano, T

Mutoh, T

Sugie, H

Koga, H

Kuriyama, M

机构：

[1] Fukui Med Univ, Fac Med, Dept Internal Med 2, Div Neurol, Matsuoka, Fukui 9101193, Japan

[2] Hamamatsu City Med Ctr Dev Med, Dept Pediat Neurol, Hamamatsu, Shizuoka, Japan

[3] Fujita Hlth Univ, Dept Neurol, Toyoake, Aichi, Japan

来源：

NEUROLOGY | 2000年 / 54卷 / 05期

关键词：

phosphoglycerate kinase deficiency; muscle cramp; PGK gene deletion;

D O I：

10.1212/WNL.54.5.1188

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report a 36-year-old man with exertional myoglobinuria and muscle cramp without hemolytic anemia or CNS symptoms. They found a deficiency of phosphoglycerate kinase (PGK) activity in muscle and erythrocytes and a 4-base pair deletion in exon 6 of the PGK gene. This mutation may cause a frameshift, yielding an abnormal stop codon in exon 6 by which a truncated PGK protein was produced. This phenotype is caused by a novel mutation of the PGK-gene.

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页码：1188 / 1190

页数：3

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