A splice junction mutation in the αM gene of phosphorylase kinase in a patient with myopathy

被引：34

作者：

Bruno, C

Manfredi, G

Andreu, AL

Shanske, S

Krishna, S

Ilse, WK

DiMauro, S

机构：

[1] Columbia 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] Univ Manitoba, Dept Med, Winnipeg, MB, Canada

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1998年 / 249卷 / 03期

关键词：

phosphorylase kinase deficiency; glycogenoses type VIII; splice junction;

D O I：

10.1006/bbrc.1998.9211

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In a 28-year-old man with myopathy and phosphorylase kinase (PhK) deficiency, we found a G-to-C substitution at the 5' end of an intron in the muscle-specific cu-subunit gene. The mutation destroys the high-consensus GT sequence at the 5' splice junction of the intron, which causes skipping of the preceding exon. This is the second molecular genetic defect identified in the myopathic variant of PhK deficiency. (C) 1998 Academic Press.

引用

页码：648 / 651

页数：4

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