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Article

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

Neuromuscular disorders : NMD - 1 Jul 2007

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

Abstract excerpt

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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17537631-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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