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Diagnosis of dystrophinopathy by skin biopsy
Author(s) -
Niiyama Takahito,
Higuchi Itsuro,
Sakoda Shunichi,
Matsumura Tsuyoshi,
Fukunaga Hidetoshi,
Osame Mitsuhiro
Publication year - 2002
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10040
Subject(s) - dystrophin , muscular dystrophy , duchenne muscular dystrophy , facioscapulohumeral muscular dystrophy , neuromuscular disease , biopsy , medicine , pathology , muscle biopsy , itga7 , spinal muscular atrophy , atrophy , progressive muscular atrophy , anatomy , utrophin , skin biopsy , disease , amyotrophic lateral sclerosis
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