Article
A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region.
Neuromuscular disorders : NMD - 1 Aug 2003
Uyama E, Yamada K, Kawano H, Chan W-M, Andrews C, Yoshioka M, Uchino M, Engle E C
Abstract excerpt
We identified a Japanese family with congenital fibrosis of the extraocular muscles, including 24 affected individuals through five generations. To determine their form of congenital fibrosis of the extraocular muscles, we performed clinical and linkage studies. DNA typing for linkage to the FEOM1 (12p11.2-q12) and FEOM3 (16qter) loci was performed on genomic DNA, using fluorescent microsatellite polymorphic...
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