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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 Negoro Kiyoshi
Creators Nogaki Hiroshi
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.
Subjects
医学 ( Other)
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