Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis
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.
aDivision of Neurology and Neuromuscular Disorders, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama-machi, Yufu City, Oita 879-5593, Japan
bDepartment of Neurology, Kumamoto Saishunso Hospital, National Hospital Organization, 2659 Suya, Koshi City, Kumamoto 861-1102, Japan
cDepartment of Neurology, Nagato Memorial Hospital, Tsuruoka 1-11-59, Saiki City, Oita 876-0835, Japan
dDepartment of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, Honjo 1-1-1, Kumamoto City, Kumamoto 860-0811, 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.
ABSTRACT