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Early onset distal muscular dystrophy with normal dysferlin expression

  • Nobuyuki Murakami
    Correspondence
    Corresponding author. Address: Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, 2-1-50 Minami-Koshigaya, Koshigaya, Saitama 343-8555, Japan. Tel.: +81 48 965 1111; fax: +81 48 965 9367.
    Affiliations
    Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, 2-1-50 Minami-Koshigaya, Koshigaya, Saitama 343-8555, Japan

    Department of Neuromuscular disorders, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan
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  • Ryoichi Sakuta
    Affiliations
    Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, 2-1-50 Minami-Koshigaya, Koshigaya, Saitama 343-8555, Japan

    Department of Neuromuscular disorders, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan
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  • Etsuro Takahashi
    Affiliations
    Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, 2-1-50 Minami-Koshigaya, Koshigaya, Saitama 343-8555, Japan
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  • Yasuki Katada
    Affiliations
    Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, 2-1-50 Minami-Koshigaya, Koshigaya, Saitama 343-8555, Japan
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  • Toshiro Nagai
    Affiliations
    Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, 2-1-50 Minami-Koshigaya, Koshigaya, Saitama 343-8555, Japan
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  • Misao Owada
    Affiliations
    Department of Pediatrics, Nihon University School of Medicine, Chiyoda-ku, Tokyo, Japan
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  • Ichizo Nishino
    Affiliations
    Department of Neuromuscular disorders, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan
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  • Ikuya Nonaka
    Affiliations
    Department of Neuromuscular disorders, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan
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      Abstract

      A 7-year-old boy, who was noted to be a slow runner at the age of 2 years, had progressive muscle weakness and atrophy, preferentially affecting distal muscles. At 3 years of age, he had scoliosis and difficulty in standing on tip-toe. Serum creatine kinase was 1074 IU/l. Muscle CT scan showed low-density areas in the lower legs and upper arms, but predominantly in the gastrocnemius and soleus muscles. Biopsy of the biceps brachii muscle showed moderate dystrophic changes with normal dysferlin expression on immunohistochemical and western blot analyses. Although muscle involvement mimicked that seen in Miyoshi myopathy (MM), the very early onset of the disease and scoliosis were quite unusual for MM. We, therefore, made the diagnosis of early onset dysferlin-positive distal muscular dystrophy, probably a new type of distal muscular dystrophy.

      Keywords

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