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Article

Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.

Neuromuscular disorders : NMD - 1 Feb 2012

Kim J, Jimenez-Mallebrera C, Foley A R, Fernandez-Fuente M, Brown S C, Torelli S, Feng L, Sewry C A, Muntoni F

Abstract excerpt

Mutations in COL6A1, COL6A2 and COL6A3 genes result in collagen VI myopathies: Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and intermediate phenotypes. At present, none of the existing diagnostic techniques for evaluating collagen VI expression is quantitative, and the detection of subtle changes in collagen VI expression remains challenging. We investigated flow cytometry analysis as a...

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Identifiers

PMID: 22075033
DOI: 10.1016/j.nmd.2011.08.006
PMCID: PMC3657173

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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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