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Article

Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy.

QJM : monthly journal of the Association of Physicians - 7 Feb 2024

Xu S, Li L, Shen L, Wang X, Feng W, Liu S

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Share to Collagen Type VI
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37738610
DOI: 10.1093/qjmed/hcad209

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Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy.PMID 37738610Read ↗

Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophySemantic proximity Read ↗

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

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

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.Semantic proximity Read ↗

Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.Semantic proximity Read ↗

Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2.Semantic proximity Read ↗

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.Semantic proximity Read ↗

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.Semantic proximity Read ↗

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.Semantic proximity Read ↗

ColVI myopathies: where do we stand, where do we go?Semantic proximity Read ↗

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