Diagnostic approach to the congenital muscular dystrophies

@inproceedings{Bnnemann2014DiagnosticAT,
  title={Diagnostic approach to the congenital muscular dystrophies},
  author={Carsten G B{\"o}nnemann and Ching H. Wang and Susana Quijano-Roy and Nicolas Deconinck and Enrico Bertini and A. Lopez Ferreiro and Francesco Muntoni and Caroline A. Sewry and Christophe B{\'e}roud and Katherine D. Mathews and Steven A. Moore and Jonathan Bellini and Anne M Rutkowski and Kathryn N North},
  booktitle={Neuromuscular Disorders},
  year={2014}
}
Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the diagnostic features, differential diagnostic considerations and available diagnostic tools for the… CONTINUE READING
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