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Article

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Neuromuscular disorders : NMD - 1 Aug 2013

Pénisson-Besnier Isabelle, Allamand Valérie, Beurrier Philippe, Martin Ludovic, Schalkwijk Joost, van Vlijmen-Willems Ivonne, Gartioux Corine, Malfait Fransiska, Syx Delfien, Macchi Laurent, Marcorelles Pascale, Arbeille Brigitte, Croué Anne, De Paepe Anne, Dubas Frédéric

Abstract excerpt

Complete deficiency of the extracellular matrix glycoprotein tenascin-X (TNX) leads to recessive forms of Ehlers-Danlos syndrome, clinically characterized by hyperextensible skin, easy bruising and joint hypermobility. Clinical and pathological studies, immunoassay, and molecular analyses were co...

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Source

Identifiers

PMID: 23768946
DOI: 10.1016/j.nmd.2013.04.009

Genes

TNXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23768946-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Compound heterozygous mutations of the TNXB gene cause primary myopathy.PMID 23768946Read ↗

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

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

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.Semantic proximity Read ↗

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.Semantic proximity Read ↗

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

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

Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndromeSemantic proximity Read ↗

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Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.Semantic proximity Read ↗

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Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.Semantic proximity Read ↗

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