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Article

Forty-five years to diagnosis.

Neuromuscular disorders : NMD - 1 Jun 2013

Erdmann Jeanette, Schunkert Heribert

Abstract excerpt

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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Source

Identifiers

PMID: 23623466
DOI: 10.1016/j.nmd.2013.03.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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