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={Manoj P Menezes and Leigh B. Waddell and Frances J. Evesson and Sandra Cooper and Ronald Webster and Katherine J. Jones and Daniel Mowat and Matthew C Kiernan and H. M. L. Johnston and Alistair D. Corbett and Marcus Harbord and Kathryn N North and Nigel F. Clarke},
  journal={Neurology},
  year={2012},
  volume={78},
  pages={1258–1263}
}
  • Manoj P Menezes, Leigh B. Waddell, +10 authors Nigel F. Clarke
  • Published in Neurology 2012
  • Medicine
  • 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… CONTINUE READING

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