Details

Autor(en) / Beteiligte

• Kirschner, Janbernd
• Brune, Thomas
• Wehnert, Manfred
• Denecke, Jonas
• Wasner, Christina
• Feuer, Anja
• Marquardt, Thorsten
• Ketelsen, Uwe-Peter
• Wieacker, Peter
• Bönnemann, Carsten G.
• Korinthenberg, Rudolf

Titel

p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria

Ist Teil von

• Annals of neurology, 2005-01, Vol.57 (1), p.148-151

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2005

Quelle

Wiley Blackwell Single Titles

Beschreibungen/Notizen

• 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