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2023 | 1 |
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Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.
Neuromuscul Disord. 2023 May;33(5):371-381. doi: 10.1016/j.nmd.2023.03.003. Epub 2023 Mar 12.
Neuromuscul Disord. 2023.
PMID: 37023487
Free article.
The transcriptome data from the muscle biopsies of two patients in the study with dominant negative mutations [COL6A2:c.811G>C and COL6A1:c.930+189C>T] supports the accepted aetiology of Collagen VI myopathy as dysfunction of the extracellular matrix. It also suggest …
The transcriptome data from the muscle biopsies of two patients in the study with dominant negative mutations [COL6A2:c.811G>C and COL6A1 …
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.
Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG.
Voermans NC, et al.
J Neurol. 2009 Jan;256(1):13-27. doi: 10.1007/s00415-009-0105-1. Epub 2009 Feb 9.
J Neurol. 2009.
PMID: 19221853
Review.
We therefore present an overview of myopathies associated with joint hypermobility: Ullrich congenital muscular dystrophy, Bethlem myopathy, congenital muscular dystrophy with joint hyperlaxity, multi-minicore disease, central core disease, and limb girdle muscular …
We therefore present an overview of myopathies associated with joint hypermobility: Ullrich congenital muscular dystrophy, Bethlem …
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