Article
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.
Journal of the neurological sciences - 15 Sept 2010
Chen Dong-Hui, Raskind Wendy H, Parson William W, Sonnen Joshua A, Vu Tiffany, Zheng Yunlin, Matsushita Mark, Wolff John, Lipe Hillary, Bird Thomas D
Abstract excerpt
An X-linked myopathy was recently associated with mutations in the four-and-a-half-LIM domains 1 (FHL1) gene. We identified a family with late onset, slowly progressive weakness of scapuloperoneal muscles in three brothers and their mother. A novel missense mutation in the LIM2 domain of FHL1 (W122C) co-segregated with disease in the family. The phenotype was less severe than that in other reported families....
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