DYSTROPHINOPATHY IN 2 YOUNG BOYS WITH EXERCISE-INDUCED CRAMPS AND MYOGLOBINURIA

被引：24

作者：

MINETTI, C ^{[1
]}

TANJI, K ^{[1
]}

CHANG, HW ^{[1
]}

MEDORI, R ^{[1
]}

CORDONE, G ^{[1
]}

DIMAURO, S ^{[1
]}

BONILLA, E ^{[1
]}

机构：

[1] IST GIANNINA GASLINI,DEPT PEDIAT,I-16148 GENOA,ITALY

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1993年 / 152卷 / 10期

关键词：

MYOGLOBINURIA; DYSTROPHINOPATHY; BECKER MUSCULAR DYSTROPHY;

D O I：

10.1007/BF02073385

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Two young boys were referred for evaluation of metabolic myopathy because of elevated serum levels of creatine kinase, cramps and pigmenturia. Immunohistochemical studies of dystrophin in muscle biopsies showed reduced intensity of the stain with a patchy and discontinuous pattern in most fibers. In both patients dystrophin was undetectable by immunoblotting. DNA analysis of the dystrophin gene was not informative in one patient; in the other it revealed an in-frame deletion comprising exons 3-6. These observations suggest that the two patients are affected with an unusual phenotype of Becker muscular dystrophy. Dystrophin analysis should be included in the evaluation of patients with childhood-onset of recurrent myoglobinuria.

引用

页码：848 / 851

页数：4

共 20 条

[1]

BEGGS AH, 1990, HUM GENET, V86, P45

[2]

BEGGS AH, 1991, AM J HUM GENET, V49, P54

[3] BECKER-TYPE MUSCULAR-DYSTROPHY [J].