Comparative Study
doi: 10.1002/ana.20359.
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria
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- PMID: 15622532
- DOI: 10.1002/ana.20359
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Comparative Study
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria
Ann Neurol.
2005 Jan.
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.
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