Forty-five years to diagnosis

Jeanette Erdmann; Heribert Schunkert

doi:10.1016/j.nmd.2013.03.006

Forty-five years to diagnosis

Jeanette Erdmann, Heribert Schunkert

Clinic for Heart and Vascular Diseases

University of Lübeck

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

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.

Original language	English
Pages (from-to)	503-505
Number of pages	3
Journal	Neuromuscular Disorders
Volume	23
Issue number	6
DOIs	https://doi.org/10.1016/j.nmd.2013.03.006
State	Published - Jun 2013

Keywords

Bethlem/Ullrich myopathy

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10.1016/j.nmd.2013.03.006

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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.",

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Forty-five years to diagnosis

Abstract

Keywords

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