Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

@article{Csoka2004NovelLA,
  title={Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes},
  author={Antonei B Csoka and Henian Cao and Paul Sammak and Dan Constantinescu and Gerald Schatten and Robert A. Hegele},
  journal={Journal of Medical Genetics},
  year={2004},
  volume={41},
  pages={304 - 308}
}
HGPS recapitulates most of the pathologies of normal aging at an accelerated rate, with sparing of the nervous system. 3 Children with HGPS usually appear normal in early infancy, but at about six months of age begin to experience profound growth delay. 4 Scalp hair, eyebrows, and eyelashes are typically lost resulting in total alopecia. 5 A gradual, almost complete lipodystrophy begins in infancy, and the skin acquires an abnormally aged appear- ance with prominent veins. In some children… 

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Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
TLDR
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