Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

@article{Vasli2012ImpactsOM,
  title={Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders},
  author={Nasim Vasli and Jocelyn Laporte},
  journal={Acta Neuropathologica},
  year={2012},
  volume={125},
  pages={173-185}
}
Neuromuscular disorders (NMD) such as neuropathy or myopathy are rare and often severe inherited disorders, affecting muscle and/or nerves with neonatal, childhood or adulthood onset, with considerable burden for the patients, their families and public health systems. Genetic and clinical heterogeneity, unspecific clinical features, unidentified genes and the implication of large and/or several genes requiring complementary methods are the main drawbacks in routine molecular diagnosis, leading… CONTINUE READING

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Next generation sequencing for molecular diagnosis of neuromuscular diseases

  • N Vasli, J Bohm, +14 authors J Laporte
  • Acta Neuropathol
  • 2012
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