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Article

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jun 2022

Picillo Esther, Torella Annalaura, Passamano Luigia, Nigro Vincenzo, Politano Luisa

Abstract excerpt

Mutations in the genes encoding collagen VI cause Bethlem myopathy (MIM 158810), Ullrich congenital muscular dystrophy (MIM 254090), and myosclerosis myopathy (MIM #255600). BM is a dominantly inherited disorder, characterised by proximal muscle weakness and joint contractures mainly involving the elbows, ankles, and fingers, which usually follows a relatively mild course. By contrast, UCMD is a severe muscular...

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Identifiers

PMID: 35832501
DOI: 10.36185/2532-1900-073
PMCID: PMC9237747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.PMID 35832501Read ↗

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