Nucleic acids encoding FHL1 mutations associated with novel X-linked muscular myopathies and methods of screening a subject

摘要

Four and a Half LIM domains protein 1 (FHL-1) mutations at positions 128 or 224 that are associated with X-linked muscular myopathy, methods of screening subjects to identify those susceptible to muscular myopathy including muscular dystrophy and cardiomyopathy and kits.