Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis.
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.
Ueyama
H
H
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
Horinouchi
H
H
Obayashi
K
K
Hashinaga
M
M
Okazaki
T
T
Kumamoto
T
T
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
C417736:CAV3 protein, human; D051244:Caveolin 3; D018388:Codon, Terminator; D014364:Tryptophan