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.
引用
收藏
页码：409 / 410
页数：2
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