Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion

Four and a half LIM protein 1 ( FHL1 / SLIM1 ) has recently been identified as the causative gene mutated in four distinct diseases affecting skeletal muscle that have overlapping features, including reducing body myopathy, X‐linked myopathy, X‐linked dominant scapuloperoneal myopathy and Emery–Dreifuss muscular dystrophy. FHL1 localises to the sarcomere and the sarcolemma and is believed to participate in muscle growth and differentiation as...