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- Document type:
- Case Reports; Journal Article
- Author(s):
- Erdmann, Jeanette; Schunkert, Heribert
- Title:
- Forty-five years to diagnosis.
- 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.
- Journal title abbreviation:
- Neuromuscul Disord
- Year:
- 2013
- Journal volume:
- 23
- Journal issue:
- 6
- Pages contribution:
- 503-5
- Language:
- eng
- Fulltext / DOI:
- doi:10.1016/j.nmd.2013.03.006
- Pubmed ID:
- http://view.ncbi.nlm.nih.gov/pubmed/23623466
- Print-ISSN:
- 0960-8966
- TUM Institution:
- Klinik für Herz- und Kreislauferkrankungen im Erwachsenenalter (Prof. Schunkert)
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