New phenotype and pathology features in MYH7-related distal myopathy.

  title={New phenotype and pathology features in MYH7-related distal myopathy.},
  author={Giorgio Tasca and Enzo Ricci and Sini Tellervo Penttil{\"a} and Mauro Monforte and Vincenzo Giglio and Pierfrancesco Ottaviani and Giovanni Camastra and G Silvestri and Bjarne A. Udd},
  journal={Neuromuscular disorders : NMD},
  volume={22 7},
Laing distal myopathy is an autosomal dominant disease due to mutations in the gene encoding for the human slow-β myosin heavy chain, MYH7. Most reports describe it as a mild, early onset myopathy with involvement usually restricted to foot extensors, hand finger extensors and neck flexors, and unspecific findings on muscle biopsy. We identified the first two Italian families with Laing distal myopathy, harboring two novel mutations in the MYH7 gene and performed clinical, neurophysiological… CONTINUE READING

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