Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene

Georgios M. Hadjigeorgiou; Noriko Kawashima; Claudio Bruno; Antonio L. Andreu; Carolyn M. Sue; Daniel J. Rigden; Atsushi Kawashima; Sara Shanske; Salvatore DiMauro

doi:10.1016/S0960-8966(99)00039-5

Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene

Georgios M. Hadjigeorgiou, Noriko Kawashima, Claudio Bruno, Antonio L. Andreu, Carolyn M. Sue, Daniel J. Rigden, Atsushi Kawashima, Sara Shanske, Salvatore DiMauro

Istituto "Giannina Gaslini"

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

Abstract

Muscle-specific phosphoglycerate mutase (PGAM-M) deficiency results in a metabolic myopathy (glycogenosis type X). Three mutations in the PGAM-M gene have been described thus far, two in African-American families and one in a Caucasian family. In two of them, manifesting heterozygotes were documented. We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D). Two heterozygous family members for the G97D mutation presented with exercise intolerance and muscle cramps. We describe the first PGAM-M mutation in the Japanese population and confirm that heterozygous individuals can be symptomatic. Copyright (C) 1999 Elsevier Science B.V.

Original language	English
Pages (from-to)	399-402
Number of pages	4
Journal	Neuromuscular Disorders
Volume	9
Issue number	6-7
DOIs	https://doi.org/10.1016/S0960-8966(99)00039-5
Publication status	Published - Oct 1 1999

Keywords

heterozygotes
Japanese
phosphoglycerate mutase

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Neurology

Access to Document

10.1016/S0960-8966(99)00039-5

Fingerprint Dive into the research topics of 'Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene'. Together they form a unique fingerprint.

Cite this

Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. / Hadjigeorgiou, Georgios M.; Kawashima, Noriko; Bruno, Claudio; Andreu, Antonio L.; Sue, Carolyn M.; Rigden, Daniel J.; Kawashima, Atsushi; Shanske, Sara; DiMauro, Salvatore.

In: Neuromuscular Disorders, Vol. 9, No. 6-7, 01.10.1999, p. 399-402.

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

Hadjigeorgiou, Georgios M. ; Kawashima, Noriko ; Bruno, Claudio ; Andreu, Antonio L. ; Sue, Carolyn M. ; Rigden, Daniel J. ; Kawashima, Atsushi ; Shanske, Sara ; DiMauro, Salvatore. / Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. In: Neuromuscular Disorders. 1999 ; Vol. 9, No. 6-7. pp. 399-402.

@article{27d2ad6bfb4646e3a4a2116221aa8ca0,

title = "Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene",

abstract = "Muscle-specific phosphoglycerate mutase (PGAM-M) deficiency results in a metabolic myopathy (glycogenosis type X). Three mutations in the PGAM-M gene have been described thus far, two in African-American families and one in a Caucasian family. In two of them, manifesting heterozygotes were documented. We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D). Two heterozygous family members for the G97D mutation presented with exercise intolerance and muscle cramps. We describe the first PGAM-M mutation in the Japanese population and confirm that heterozygous individuals can be symptomatic. Copyright (C) 1999 Elsevier Science B.V.",

keywords = "heterozygotes, Japanese, phosphoglycerate mutase",

author = "Hadjigeorgiou, {Georgios M.} and Noriko Kawashima and Claudio Bruno and Andreu, {Antonio L.} and Sue, {Carolyn M.} and Rigden, {Daniel J.} and Atsushi Kawashima and Sara Shanske and Salvatore DiMauro",

year = "1999",

month = oct,

day = "1",

doi = "10.1016/S0960-8966(99)00039-5",

language = "English",

volume = "9",

pages = "399--402",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd",

number = "6-7",

}

TY - JOUR

T1 - Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene

AU - Hadjigeorgiou, Georgios M.

AU - Kawashima, Noriko

AU - Bruno, Claudio

AU - Andreu, Antonio L.

AU - Sue, Carolyn M.

AU - Rigden, Daniel J.

AU - Kawashima, Atsushi

AU - Shanske, Sara

AU - DiMauro, Salvatore

PY - 1999/10/1

Y1 - 1999/10/1

N2 - Muscle-specific phosphoglycerate mutase (PGAM-M) deficiency results in a metabolic myopathy (glycogenosis type X). Three mutations in the PGAM-M gene have been described thus far, two in African-American families and one in a Caucasian family. In two of them, manifesting heterozygotes were documented. We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D). Two heterozygous family members for the G97D mutation presented with exercise intolerance and muscle cramps. We describe the first PGAM-M mutation in the Japanese population and confirm that heterozygous individuals can be symptomatic. Copyright (C) 1999 Elsevier Science B.V.

AB - Muscle-specific phosphoglycerate mutase (PGAM-M) deficiency results in a metabolic myopathy (glycogenosis type X). Three mutations in the PGAM-M gene have been described thus far, two in African-American families and one in a Caucasian family. In two of them, manifesting heterozygotes were documented. We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D). Two heterozygous family members for the G97D mutation presented with exercise intolerance and muscle cramps. We describe the first PGAM-M mutation in the Japanese population and confirm that heterozygous individuals can be symptomatic. Copyright (C) 1999 Elsevier Science B.V.

KW - heterozygotes

KW - Japanese

KW - phosphoglycerate mutase

UR - http://www.scopus.com/inward/record.url?scp=0032829329&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032829329&partnerID=8YFLogxK

U2 - 10.1016/S0960-8966(99)00039-5

DO - 10.1016/S0960-8966(99)00039-5

M3 - Article

C2 - 10545043

AN - SCOPUS:0032829329

VL - 9

SP - 399

EP - 402

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 6-7

ER -

Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this