DYSTROPHIN IMMUNOHISTOCHEMISTRY IN A SYMPTOMATIC CARRIER OF BECKER MUSCULAR-DYSTROPHY

被引：8

作者：

HAGINOYA, K

YAMAMOTO, K

IINUMA, K

YANAGISAWA, T

ICHINOHASAMA, Y

SHIMMOTO, M

SUZUKI, Y

TADA, K

机构：

[1] ISHINOMAKI RED CROSS GEN HOSP,DEPT PAEDIAT,ISHINOMAKI 986,JAPAN

[2] TOKYO METROPOLITAN INST MED SCI,DIV CLIN GENET,TOKYO 113,JAPAN

来源：

JOURNAL OF NEUROLOGY | 1991年 / 238卷 / 07期

关键词：

BECKER MUSCULAR DYSTROPHY; DYSTROPHIN; MANIFESTING CARRIER; IMMUNOHISTOCHEMISTRY;

D O I：

10.1007/BF00319855

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Immunohistochemical localization of dystrophin was studied in a symptomatic carrier of Becker muscular dystrophy (BMD). Muscle biopsy specimens from a female carrier showed findings compatible with slowly progressive muscular dystrophy by ordinary histochemical examinations. Immunohistochemical study, using an antiserum raised against a synthetic peptide fragment of dystrophin, demonstrated a mixture of staining patterns, including continuous but faint positive fibres, partially disrupted fibres and negative fibres. These findings were identical to those of patients with BMD and appear to differ from previous findings in female carriers of Duchenne muscular dystrophy. This report is the first immunohistochemical study of a symptomatic female proven by molecular genetic analysis to be a carrier of BMD.

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收藏

页码：375 / 378

页数：4

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