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- W2000434429 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." @default.
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- W2000434429 date "2007-07-01" @default.
- W2000434429 modified "2023-10-09" @default.
- W2000434429 title "Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis" @default.
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- W2000434429 doi "https://doi.org/10.1016/j.nmd.2007.03.009" @default.
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