MYOPHOSPHORYLASE DEFICIENCY - AN UNUSUALLY SEVERE FORM WITH MYOGLOBINURIA

被引：14

作者：

KRISTJANSSON, K

TSUJINO, S

DIMAURO, S

机构：

[1] BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA

[2] COLUMBIA UNIV, COLL PHYS & SURG, H HOUSTON MERRIT CLIN RES CTR MUSCULAR DYSTROPHY, NEW YORK, NY USA

来源：

JOURNAL OF PEDIATRICS | 1994年 / 125卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(05)83287-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Myophosphorylase deficiency (McArdle disease) is characterized by exercise intolerance that usually starts in childhood. Severe cramps and myoglobinuria are rarely problems in children. We describe an 8-year-old boy with exercise-induced myoglobinuria; he was homozygous for the mutation most commonly encountered in patients with typical McArdle disease.

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页码：409 / 410

页数：2

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