p. S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria
J Kirschner, T Brune, M Wehnert… - Annals of Neurology …, 2005 - Wiley Online Library
J Kirschner, T Brune, M Wehnert, J Denecke, C Wasner, A Feuer, T Marquardt, UP Ketelsen…
Annals of Neurology: Official Journal of the American Neurological …, 2005•Wiley Online LibraryWe report a young girl with a phenotype combining early‐onset myopathy and a progeria.
She had myopathy and marked axial weakness during the first year of life; progeroid
features, including growth failure, sclerodermatous skin changes, 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 have been known to cause Hutchinson–Gilford …
She had myopathy and marked axial weakness during the first year of life; progeroid
features, including growth failure, sclerodermatous skin changes, 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 have been known to cause Hutchinson–Gilford …
Abstract
We report a young girl with a phenotype combining early‐onset myopathy and a progeria. She had myopathy and marked axial weakness during the first year of life; progeroid features, including growth failure, sclerodermatous skin changes, 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 have been known to cause Hutchinson–Gilford progeria syndrome and Emery–Dreifuss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA. Ann Neurol 2005;57:148–151
Wiley Online Library