p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria
Open Access
- 27 December 2004
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 57 (1) , 148-151
- https://doi.org/10.1002/ana.20359
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;57:148–151Keywords
Funding Information
- German Research Foundation (DFG Ki 812/1-1)
- Pew Scholarship in the Biomedical Sciences
- German ministry of education and research (BMBF, Bonn, Germany) (R8, 01GM0302)
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