Diagnosis of dystrophinopathy by skin biopsy

• Published in: Muscle & nerve Vol. 25; no. 3; pp. 398 - 401
• Main Authors: Niiyama, Takahito, Higuchi, Itsuro, Sakoda, Shunichi, Matsumura, Tsuyoshi, Fukunaga, Hidetoshi, Osame, Mitsuhiro
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 01.03.2002; Wiley
• Subjects: arrector pili muscle; Biological and medical sciences; Biopsy; Diseases of striated muscles. Neuromuscular diseases; Duchenne/Becker muscular dystrophy; dystrophin; dystrophinopathy; Hair Follicle - pathology; Humans; Medical sciences; Muscular Atrophy, Spinal - pathology; Muscular Dystrophies - pathology; Muscular Dystrophy, Duchenne - pathology; Muscular Dystrophy, Facioscapulohumeral - pathology; Neurology; Neuromuscular Diseases - pathology; Skin - pathology; skin biopsy; Human; Becker muscular dystrophy; Nervous system diseases; Neuromuscular diseases; Arrector pilorum muscle; Smooth muscle; Gene expression; Genetic disease; Biopsy; Duchenne muscular dystrophy; Skin; Diagnosis; Dystrophin
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.10040

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. © 2002 Wiley Periodicals, Inc. Muscle Nerve 25: 000–000, 2002 DOI 10.1002/mus.10040