A Case of Manifesting Carrier of Duchenne Muscular Dystrophy (DMD)

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.

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