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Article

Ehlers–Danlos syndrome due to tenascin‐X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies

14 Aug 2007

Abstract excerpt

Contains fulltext : 51804.pdf (Publisher’s version ) (Open Access)

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Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17702048
DOI: 10.1002/ajmg.a.31899

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Related research

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Ehlers–Danlos syndrome due to tenascin‐X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathiesPMID 17702048Read ↗

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrixSemantic proximity Read ↗

TNXB-Related Disorders: A Qualitative Evidence Synthesis and Proposal for Reclassification as a Muscle-ECM Interface DisorderSemantic proximity Read ↗

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Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.Semantic proximity Read ↗

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Collagen VI related muscle disorders.Semantic proximity Read ↗

The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Semantic proximity Read ↗

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB VariantSemantic proximity Read ↗

Tenascin-X as a causal gene for classical-like Ehlers-Danlos syndromeSemantic proximity Read ↗

Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Semantic proximity Read ↗

Autosomal recessive Bethlem myopathy.Semantic proximity Read ↗

Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course.Semantic proximity Read ↗

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