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

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

doi:10.1016/j.nmd.2007.03.009

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

Neuromuscul Disord. 2007 Jul;17(7):558-61. doi: 10.1016/j.nmd.2007.03.009. Epub 2007 May 29.

Authors

H Ueyama¹, H Horinouchi, K Obayashi, M Hashinaga, T Okazaki, T Kumamoto

Affiliation

¹ 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

PMID: 17537631
DOI: 10.1016/j.nmd.2007.03.009

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.

Publication types

Case Reports

MeSH terms

Adult
Caveolin 3 / genetics*
Codon, Terminator / genetics
DNA Mutational Analysis
Homozygote*
Humans
Magnetic Resonance Imaging
Male
Muscular Diseases / genetics*
Muscular Diseases / pathology
Mutation / genetics*
Ocular Motility Disorders / genetics*
Ocular Motility Disorders / pathology
Oculomotor Muscles / pathology
Oculomotor Muscles / physiopathology
Tryptophan / genetics

Substances

CAV3 protein, human
Caveolin 3
Codon, Terminator
Tryptophan