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

Ueyama, H.; Horinouchi, H.; Obayashi, K.; Hashinaga, M.; Okazaki, T.; Kumamoto, T.

doi:10.1016/j.nmd.2007.03.009

« Previous Next »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
- 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. 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
- 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
- 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
- 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
- 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
- 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; received in revised form 12 December 2006; accepted 15 March 2007.

Abstract

We describe a 39-year-old Japanese man with rippling muscle disease who carried a novel homozygous mutation (Trp70 to a stop codon) in the caveolin-3 gene. The patient also had extraocular muscle paresis showing atrophy of the extraocular muscles on orbital MRI. The involvement of the extraocular muscles of patients with caveolinopathy is discussed.

Keywords: Rippling muscle disease, Caveolin-3, Homozygote, Extraocular muscle, Limb-girdle muscular dystrophy 1C