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

Central Japan International Airport Clinic

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

26 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

All Science Journal Classification (ASJC) codes

Clinical Neurology

Access to Document

10.1212/WNL.54.5.1188

Fingerprint Dive into the research topics of 'Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation'. Together they form a unique fingerprint.

Cite this

@article{c47f15530b5d4d25998cd892c1a60f50,

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.",

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

year = "2000",

month = mar,

day = "14",

doi = "10.1212/WNL.54.5.1188",

language = "English",

volume = "54",

pages = "1188--1190",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "5",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=0034646435&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034646435&partnerID=8YFLogxK

U2 - 10.1212/WNL.54.5.1188

DO - 10.1212/WNL.54.5.1188

M3 - Article

C2 - 10720297

AN - SCOPUS:0034646435

VL - 54

SP - 1188

EP - 1190

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 5

ER -