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Research paper
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B
  1. Toshiaki Takahashi1,
  2. Masashi Aoki2,
  3. Naoki Suzuki2,
  4. Maki Tateyama2,
  5. Chikako Yaginuma3,
  6. Hitomi Sato3,
  7. Miho Hayasaka3,4,
  8. Hitomi Sugawara3,
  9. Mariko Ito3,5,
  10. Emi Abe-Kondo3,6,
  11. Naoko Shimakura2,
  12. Tohru Ibi7,8,
  13. Satoshi Kuru9,
  14. Tadashi Wakayama9,10,
  15. Gen Sobue11,
  16. Naoki Fujii12,
  17. Toshio Saito13,
  18. Tsuyoshi Matsumura13,
  19. Itaru Funakawa14,
  20. Eiichiro Mukai15,
  21. Toru Kawanami16,
  22. Mitsuya Morita17,
  23. Mineo Yamazaki18,
  24. Takashi Hasegawa19,20,
  25. Jun Shimizu21,
  26. Shoji Tsuji21,
  27. Shigeki Kuzuhara22,23,
  28. Hiroyasu Tanaka1,
  29. Masaru Yoshioka1,3,
  30. Hidehiko Konno1,
  31. Hiroshi Onodera1,
  32. Yasuto Itoyama2,24
  1. 1Department of Neurology and Division of Clinical Research, National Hospital Organization Nishitaga National Hospital, Sendai, Japan
  2. 2Department of Neurology, Tohoku University School of Medicine, Sendai, Japan
  3. 3Department of Clinical Laboratory and Division of Clinical Research, National Hospital Organization Nishitaga National Hospital, Sendai, Japan
  4. 4Department of Clinical Laboratory, National Hospital Organization Fukushima National Hospital, Fukushima, Japan
  5. 5Department of Clinical Laboratory, National Hospital Organization Sendai Medical Centre, Sendai, Japan
  6. 6Department of Clinical Laboratory, Sagami Hospital of Rehabilitation, Sagamihara, Japan
  7. 7Department of Neurology, Aichi Medical University, Aichi, Japan
  8. 8Division of Pathophysiology and Therapeutics, College of Nursing, Aichi Medical University, Aichi, Japan
  9. 9Department of Neurology, National Hospital Organization Suzuka National Hospital, Mie, Japan
  10. 10Dr Wakayama's office, Nagoya, Japan
  11. 11Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  12. 12Department of Neurology, National Hospital Organization Omuta National Hospital, Fukuoka, Japan
  13. 13Department of Neurology, National Hospital Organization Toneyama National Hospital, Osaka, Japan
  14. 14Department of Neurology, National Hospital Organization Hyogo-Cyuo National Hospital, Hyogo, Japan
  15. 15Department of Neurology, National Hospital Organization Nagoya Medical Centre, Nagoya, Japan
  16. 16Division of Neurology, Third Department of Internal Medicine, Yamagata University Faculty of Medicine, Yamagata, Japan
  17. 17Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan
  18. 18Division of Neurology, Department of Internal Medicine, Nippon Medical School, Tokyo, Japan
  19. 19Division of Neurology, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan
  20. 20Department of Internal Medicine, Asao General Hospital of Rehabilitation, Kawasaki, Japan
  21. 21Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
  22. 22Department of Neurology, Mie University School of Medicine, Mie, Japan
  23. 23Department of Medical Welfare, Suzuka University of Medical Science Faculty of Health Science, Mie, Japan
  24. 24National Centre Hospital, National Centre of Neurology and Psychiatry, Tokyo, Japan
  1. Correspondence to Dr M Aoki, Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan; aokim{at}med.tohoku.ac.jp

Abstract

Objective and methods Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed.

Results and conclusions Three mutations (c.1566C>G, c.2997G>T and c.4497delT) were relatively more prevalent. The c.2997G>T mutation was associated with late onset, proximal dominant forms of dysferlinopathy, a high probability that muscle weakness started in an upper limb and lower serum creatine kinase (CK) levels. The clinical features of LGMD2B are as follows: (1) onset in the late teens or early adulthood, except patients homozygous for the c.2997G>T mutation; (2) lower limb weakness at onset; (3) distal change of lower limbs on muscle CT at an early stage; (4) impairment of lumbar erector spinal muscles on muscle CT at an early stage; (5) predominant involvement of proximal upper limbs; (6) preservation of function of the hands at late stage; (7) preservation of strength in neck muscles at late stage; (8) lack of facial weakness or dysphagia; (9) avoidance of scoliosis; (10) hyper-Ckaemia; (11) preservation of cardiac function; and (12) a tendency for respiratory function to decline with disease duration. It is important that the late onset phenotype is found with prevalent mutations.

  • Muscular Dystrophy
  • Neurogenetics
  • Clinical Neurology

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