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Neuromuscul Disord. 2013 Jun;23(6):503-5. doi: 10.1016/j.nmd.2013.03.006. Epub 2013 Apr 25.

Forty-five years to diagnosis.

Author information

1
Institut für Integrative und Experimentelle Genomik, Universität zu Lübeck, Ratzeburger Allee 160, D-23562 Lübeck, Germany. jeanette.erdmann@iieg.uni-luebeck.de

Abstract

A long lasting journey of almost 45 years led in the end to a diagnosis of a Collagen 6A myopathy. Modern information technology and next generation sequencing made the difference - a very personal report.

PMID:
23623466
DOI:
10.1016/j.nmd.2013.03.006
[Indexed for MEDLINE]

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