Nogaki Hiroshi
Affiliate Master
Yamaguchi University
A Case of Manifesting Carrier of Duchenne Muscular Dystrophy (DMD)
山口医学 Volume 44 Issue 5
Page 253-258
published_at 1995-10
Title
Duchenne型筋ジストロフィー(DMD)のmanifesting carrierの一例
A Case of Manifesting Carrier of Duchenne Muscular Dystrophy (DMD)
Creators
Nishimura Yukiko
Creators
Sasabe Fujio
Creators
Fukusako Toshihiro
Creators
Morimitsu Mitsunori
Source Identifiers
Creator Keywords
Duchnne型筋ジストロフィー
marnifesting carrier
dystrophin 免疫染色
ヘテロ発症
Lyonの仮説
A 63-year-old female with slowly progressive asymmetrical muscle weakness was diagnosed as a manifesting carrier of Duchenne muscular dystrophy (DMD). She had family history of DMD, and serum creatine kinase was elevated. Electromyography showed myopathic changes, and computed tomography showed patchy involvement of skeletal muscles. Immunohistochemical study of dystrophin in biopsied muscles showed a mosaic of fibers with and without dystrophin. This mosaic staining pattern is characteristic of a carrier of DMD.She had normal female sex chromosome pattern with 46 XX normal karyotype.The mechanism of the occurrence of this case would be explained with Lyon hypothesis.
Languages
jpn
Resource Type
journal article
Publishers
山口大学医学会
Date Issued
1995-10
File Version
Not Applicable (or Unknown)
Access Rights
metadata only access
Relations
[ISSN]0513-1731
[NCID]AN00243156
Schools
医学部