In addition, Strang-Karlsson et al. reported on a family with two siblings with a homozygous POMK missense mutation resulting in mild congenital muscular dystrophy: during childhood hip and neck cramps (triggered by yawning) were described together with proximal muscle weakness with calf hypertrophy. The gene discussed is POMK; the disease is congenital muscular dystrophy due to LMNA mutation.