We report a young girl with a phenotype combining early-on-set myopathy a nd a progeria. She had myopathy and marked axial weakness during the first year of life; progeroid features, including growth failure, sclerode...We report a young girl with a phenotype combining early-on-set myopathy a nd a progeria. She had myopathy and marked axial weakness during the first year of life; progeroid features, including growth failure, sclerodermatous skin chan ges, and osteolytic lesions, developed later. We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA gene (S143F) encoding the nuclear envelope proteins lamins A and C. Although LMNA mutations h ave been known to cause Hutchinson-Gilford progeria syndrome and Emery-Dreif uss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA.展开更多
文摘We report a young girl with a phenotype combining early-on-set myopathy a nd a progeria. She had myopathy and marked axial weakness during the first year of life; progeroid features, including growth failure, sclerodermatous skin chan ges, and osteolytic lesions, developed later. We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA gene (S143F) encoding the nuclear envelope proteins lamins A and C. Although LMNA mutations h ave been known to cause Hutchinson-Gilford progeria syndrome and Emery-Dreif uss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA.
