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Article

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

Proceedings of the National Academy of Sciences of the United States of America - 19 Jun 2001

Camacho Vanegas O, Bertini E, Zhang R Z, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu M L, Pepe G

Abstract excerpt

Ullrich syndrome is a recessive congenital muscular dystrophy affecting connective tissue and muscle. The molecular basis is unknown. Reverse transcription-PCR amplification performed on RNA extracted from fibroblasts or muscle of three Ullrich patients followed by heteroduplex analysis displayed heteroduplexes in one of the three genes coding for collagen type VI (COL6). In patient A, we detected a homozygous...

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Identifiers

PMID: 11381124
DOI: 10.1073/pnas.121027598
PMCID: PMC34700

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.PMID 11381124Read ↗

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A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Frameshift mutation in the collagen VI gene causes Ullrich's diseaseSemantic proximity Read ↗

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

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