Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

A whole-genome scan of families affected by Emery-Dreifuss muscular dystrophy (EDMD) is conducted and its linkage to Xq26.3 locus containing the FHL1 gene is identified, along with seven mutations in the distal exons of FHL1. The reduced levels of FHL1 proteins in EDMD patients, which are associated with a severe delay in myotube formation, suggest that FHL1 gene is associated with both the X-linked EDMD phenotype and hypertrophic myopathy.