title: Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis.
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.
authors.affiliation: 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. hueyama@saisyunsou1.hosp.go.jp
authors.forename: H
authors.initials: H
authors.lastname: Ueyama
authors.forename: H
authors.initials: H
authors.lastname: Horinouchi
authors.forename: K
authors.initials: K
authors.lastname: Obayashi
authors.forename: M
authors.initials: M
authors.lastname: Hashinaga
authors.forename: T
authors.initials: T
authors.lastname: Okazaki
authors.forename: T
authors.initials: T
authors.lastname: Kumamoto
mesh_terms: D000328:Adult; D051244:Caveolin 3 / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000235:genetics* / Q000473:pathology; D009801:Oculomotor Muscles / Q000473:pathology / Q000503:physiopathology; D014364:Tryptophan / Q000235:genetics
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D018388:Codon, Terminator; D014364:Tryptophan