Article
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).
Neuromuscular disorders : NMD - 1 Dec 2008
Shalaby Sherine, Hayashi Yukiko K, Goto Kanako, Ogawa Megumu, Nonaka Ikuya, Noguchi Satoru, Nishino Ichizo
Abstract excerpt
Four-and-a-half LIM domain 1 gene (FHL1) has recently been identified as the causative gene for reducing body myopathy (RBM), X-linked scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA). Rigid spine is a common clinical feature of the three diseases. We searched for FHL1 mutations in eighteen patients clinically diagnosed as rigid spine syndrome (RSS). We identified one RSS...
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