Diagnosis of dystrophinopathy by skin biopsy.
We studied the expression of dystrophin in skin biopsy samples from 19 patients with neuromuscular diseases. Immunohistochemical procedures for dystrophin analyses were performed using monoclonal antibodies for three different domains. Arrector pili muscles, which are smooth muscles in the skin, expressed dystrophin in the patients with limb-girdle muscular dystrophy (5), facioscapulohumeral muscular dystrophy (1), and spinal muscular atrophy (3), and in normal controls (2). The C-terminus of dystrophin was slightly expressed in the patients with Duchenne muscular dystrophy, whereas the rod domain and N-terminus were absent. In one patient with Becker muscular dystrophy, the expression of dystrophin was reduced. The mosaic of dystrophin positive and negative smooth muscle fibers was observed in a manifesting carrier of Duchenne muscular dystrophy. Our results suggest that skin biopsy is very useful for the diagnosis of Duchenne/Becker muscular dystrophy and manifesting carrier of Duchenne muscular dystrophy, and can be performed even at an advanced stage of the disease.
Niiyama
Takahito
T
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan. takahito@m.kufm.kagoshima-u.ac.jp
Higuchi
Itsuro
I
Sakoda
Shunichi
S
Matsumura
Tsuyoshi
T
Fukunaga
Hidetoshi
H
Osame
Mitsuhiro
M
D001706:Biopsy; D018859:Hair Follicle / Q000473:pathology; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000473:pathology; D009136:Muscular Dystrophies / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000473:pathology; D009468:Neuromuscular Diseases / Q000473:pathology*; D012867:Skin / Q000473:pathology*