Neuromuscular Disorders
Volume 17, Issue 7 , Pages 558-561 , July 2007

Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis

  • H. Ueyama

      Affiliations

    • Division of Neurology and Neuromuscular Disorders, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama-machi, Yufu City, Oita 879-5593, Japan
    • Department of Neurology, Kumamoto Saishunso Hospital, National Hospital Organization, 2659 Suya, Koshi City, Kumamoto 861-1102, Japan
    • Corresponding Author InformationCorresponding author. Address: Department of Neurology, Kumamoto Saishunso Hospital, National Hospital Organization, 2659 Suya, Koshi City, Kumamoto 861-1102, Japan. Tel.: +81 96 242 1000; fax: +81 96 249 1900.
    • ,
  • H. Horinouchi

      Affiliations

    • Division of Neurology and Neuromuscular Disorders, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama-machi, Yufu City, Oita 879-5593, Japan
    • Department of Neurology, Nagato Memorial Hospital, Tsuruoka 1-11-59, Saiki City, Oita 876-0835, Japan
    • ,
  • K. Obayashi

      Affiliations

    • Division of Neurology and Neuromuscular Disorders, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama-machi, Yufu City, Oita 879-5593, Japan
    • Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, Honjo 1-1-1, Kumamoto City, Kumamoto 860-0811, Japan
    • ,
  • M. Hashinaga

      Affiliations

    • Division of Neurology and Neuromuscular Disorders, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama-machi, Yufu City, Oita 879-5593, Japan
    • ,
  • T. Okazaki

      Affiliations

    • Division of Neurology and Neuromuscular Disorders, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama-machi, Yufu City, Oita 879-5593, Japan
    • ,
  • T. Kumamoto

      Affiliations

    • Division of Neurology and Neuromuscular Disorders, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama-machi, Yufu City, Oita 879-5593, Japan

Received 4 September 2006 ,Revised 12 December 2006 ,Accepted 15 March 2007.

References 

  1. Torbergsen T. Rippling muscle disease: a review. Muscle Nerve. 2002;(Suppl. 11):S103–S107
  2. Betz RC, Schoser BG, Kasper D, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet. 2001;28:218–219
  3. Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Caveolinopathies. Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology. 2004;62:538–543
  4. McNally EM, Moreira E, Duggan DJ, et al. Caveolin-3 in muscular dystrophy. Hum Mol Genet. 1998;7:871–877
  5. Koul RL, Chand RP, Chacko A, et al. Severe autosomal recessive rippling muscle disease. Muscle Nerve. 2001;24:1542–1547
  6. Kubisch C, Schoser BG, von Düring M, et al. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann Neurol. 2003;53:512–520
  7. Kubisch C, Ketelsen UP, Goebel I, Omran H. Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. Ann Neurol. 2005;57:303–304
  8. Müller JS, Piko H, Schoser BGH, et al. Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. Neuromuscul Disord. 2006;16:432–436
  9. Minetti C, Sotgia F, Bruno C, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet. 1998;18:365–368
  10. Hagiwara Y, Sasaoka T, Araishi K, et al. Caveolin-3 deficiency causes muscle degeneration in mice. Hum Mol Genet. 2000;9:3047–3054
  11. Kosmorsky GS, Mehta N, Mitsumoto H, Prayson R. Intermittent esotropia associated with rippling muscle disease. J Neuroopthalmol. 1995;15:147–151

PII: S0960-8966(07)00110-1

doi: 10.1016/j.nmd.2007.03.009

Neuromuscular Disorders
Volume 17, Issue 7 , Pages 558-561 , July 2007

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