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Article

Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jul 2023

Barington Maria, Dunø Morten, Birkedal Ulf, Vissing John, Born Alfred Peter, Krag Thomas, Hansen Thomas van Overeem, Østergaard Elsebet

Abstract excerpt

The three major collagen VI genes: COL6A1, COL6A2, and COL6A3 encode microfibrillar components of extracellular matrices in multiple tissues including muscles and tendons. Pathogenic variants in the collagen VI genes cause collagen VI-related dystrophies representing a continuum of conditions from Bethlem myopathy at the milder end to Ullrich congenital muscular dystrophy at the more severe end. Here we describe...

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Identifiers

PMID: 37315421
DOI: 10.1016/j.nmd.2023.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.PMID 37315421Read ↗

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