Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

@article{Menezes2012ImportanceAC,
  title={Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy},
  author={M. Menezes and L. Waddell and F. Evesson and S. Cooper and R. Webster and K. Jones and D. Mowat and M. Kiernan and H. Johnston and A. Corbett and M. Harbord and K. North and N. Clarke},
  journal={Neurology},
  year={2012},
  volume={78},
  pages={1258 - 1263}
}
Objective: To identify the most useful clinical and histologic markers that facilitate early diagnosis in LMNA-related muscular dystrophy and to assess the usefulness of Western blotting (WB) for lamin A/C. Methods: We analyzed the clinical and histologic features and WB results of all patients with laminopathies diagnosed in a research-based diagnostic service over 8 years. Results: Although patients with congenital muscular dystrophy (MDCL) (n = 5) and Emery-Dreifuss muscular dystrophy (EDMD… Expand
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