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Article

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.

PloS one - 1 Jan 2017

Butterfield Russell J, Dunn Diane M, Hu Ying, Johnson Kory, Bönnemann Carsten G, Weiss Robert B

Abstract excerpt

OBJECTIVES: The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contractures. Inheritance can be dominant negative (DN) or recessive depending on the type and location of the mutation. DN...

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Source

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Identifiers

PMID: 29244830
DOI: 10.1371/journal.pone.0189664
PMCID: PMC5731705

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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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