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

T. Hamano; Tatsuro Mutoh; H. Sugie; H. Koga; M. Kuriyama

doi:10.1212/WNL.54.5.1188

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

T. Hamano, Tatsuro Mutoh, H. Sugie, H. Koga, M. Kuriyama

Research output: Contribution to journal › Article › peer-review

31 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	1188-1190
Number of pages	3
Journal	Neurology
Volume	54
Issue number	5
DOIs	https://doi.org/10.1212/WNL.54.5.1188
Publication status	Published - 14-03-2000
Externally published	Yes

All Science Journal Classification (ASJC) codes

Clinical Neurology

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10.1212/WNL.54.5.1188

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title = "Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation",

abstract = "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.",

keywords = "Muscle cramp, PGK gene deletion, Phospnoglycerate kinase deficiency",

author = "T. Hamano and Tatsuro Mutoh and H. Sugie and H. Koga and M. Kuriyama",

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TY - JOUR

T1 - Phosphoglycerate kinase deficiency

T2 - An adult myopathic form with a novel mutation

AU - Hamano, T.

AU - Mutoh, Tatsuro

AU - Sugie, H.

AU - Koga, H.

AU - Kuriyama, M.

PY - 2000/3/14

Y1 - 2000/3/14

N2 - 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.

AB - 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.

KW - Muscle cramp

KW - PGK gene deletion

KW - Phospnoglycerate kinase deficiency

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M3 - Article

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AN - SCOPUS:0034646435

SN - 0028-3878

VL - 54

SP - 1188

EP - 1190

JO - Neurology

JF - Neurology

IS - 5

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

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