Next generation sequencing detection of late onset pompe disease

Corrado Angelini, Marco Savarese, Marina Fanin, Vincenzo Nigro
  • Muscle & Nerve, April 2016, Wiley
  • DOI: 10.1002/mus.25042

What is it about?

A LGMD patient that was found to have GAA defect

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http://dx.doi.org/10.1002/mus.25042

The following have contributed to this page: Prof Corrado Angelini