Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

@article{Zirn2008AssociationOH,
  title={Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy},
  author={B. Zirn and W. Kress and T. Grimm and L. Berthold and B. Neubauer and K. Kuchelmeister and U. M{\"u}ller and A. Hahn},
  journal={American Journal of Medical Genetics Part A},
  year={2008},
  volume={146A}
}
  • B. Zirn, W. Kress, +5 authors A. Hahn
  • Published 2008
  • Biology, Medicine
  • American Journal of Medical Genetics Part A
We report on a 7‐year‐old girl with a phenotype combining mandibuloacral dysplasia (MAD), progeria, and rigid spine muscular dystrophy. Mild proximal weakness, contractures, and rigidity of the spine were the primary findings. Although present since birth, dysmorphic manifestations typical for MAD and progeroid features became more prominent with time, and the full clinical phenotype was recognizable at early school age. Her phenotype was caused by a homozygous mutation in LMNA (c.1411C > T… Expand
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