A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease

被引：21

作者：

Bruno, C

Tamburino, L

Kawashima, N

Andreu, AL

Shanske, S

Hadjigeorgiou, GM

Kawashima, A

DiMauro, S

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USA

[2] Hosp Gen Valle Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona, Spain

[3] Sapporo City Gen Hosp, Dept Neurol, Sapporo, Hokkaido, Japan

来源：

NEUROMUSCULAR DISORDERS | 1999年 / 9卷 / 01期

关键词：

nonsense mutation; myophosphorylase gene; McArdle's disease;

D O I：

10.1016/S0960-8966(98)00096-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We identified a new mutation in the myophosphorylase gene in a Japanese family with McArdle's disease. This point mutation results in the replacement of a tryptophan at amino acid position 361 with a stop codon, the third nonsense mutation in this disorder. Our findings further expand the already wide spectrum of genetic Lesions associated with McArdle's disease, and establish that molecular genetic heterogeneity is also present in the Japanese population. (C) 1999 Elsevier Science B.V. All rights reserved.

引用

页码：34 / 37

页数：4

共 14 条

[1] Molecular genetic analysis of McArdle's disease in Spanish patients [J].

Andreu, AL ;

Bruno, C ;

Gamez, J ;

Shanske, S ;

Cervera, C ;

Navarro, C ;

Arbos, MA ;

Tamburino, L ;

Schwartz, S ;

DiMauro, S .

NEUROLOGY, 1998, 51 (01) :260-262

[2] MCARDLES-DISEASE - A NONSENSE MUTATION IN EXON-1 OF THE MUSCLE GLYCOGEN-PHOSPHORYLASE GENE EXPLAINS SOME BUT NOT ALL CASES [J].

BARTRAM, C ;

EDWARDS, RHT ;

CLAGUE, J ;

BEYNON, RJ .

HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1291-1293

[3] Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria [J].

Bruno, C ;

Minetti, C ;

Shanske, S ;

Morreale, G ;

Bado, M ;

Cordone, G ;

DiMauro, S .

NEUROLOGY, 1998, 50 (01) :296-298

[4]

Di Mauro S, 1997, MOL GENETIC BASIS NE, P201

[5] Diagnosis of McArdle's disease by molecular genetic analysis of blood [J].

ElSchahawi, M ;

Tsujino, S ;

Shanske, S ;

DiMauro, S .

NEUROLOGY, 1996, 47 (02) :579-580

[6] EVOLUTION OF ALLOSTERIC CONTROL IN GLYCOGEN-PHOSPHORYLASE [J].

HUDSON, JW ;

GOLDING, GB ;

CRERAR, MM .

JOURNAL OF MOLECULAR BIOLOGY, 1993, 234 (03) :700-721

[7]

Kubisch C, 1998, HUM MUTAT, V12, P27, DOI 10.1002/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO

[8]

2-#

[9] Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy [J].

Martinuzzi, A ;

Tsujino, S ;

Vergani, L ;

Schievano, G ;

Cadaldini, M ;

Bartoloni, L ;

Fanin, M ;

Siciliano, G ;

Shanske, S ;

DiMauro, S ;

Angelini, C .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1996, 137 (01) :14-19

[10] GENETIC-ANALYSIS OF JAPANESE PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE) - SINGLE-CODON DELETION IN EXON-17 IS THE PREDOMINANT MUTATION [J].

SUGIE, H ;

SUGIE, Y ;

ITO, M ;

FUKUDA, T ;

NONAKA, I ;

IGARASHI, Y .

CLINICA CHIMICA ACTA, 1995, 236 (01) :81-86

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