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Article

Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts.

Muscle & nerve - 1 Jun 2018

Witting Nanna, Krag Thomas, Werlauff Ulla, Duno Morten, Oestergaard Sofie Thuroe, Dahlqvist Julia Rebecka, Vissing John

Abstract excerpt

INTRODUCTION: Mutation in the collagen XII gene (COL12A1) was recently reported to induce Bethlem myopathy. We describe a family affected by collagen XII-related myopathy in 3 generations. METHODS: Systematic interview, clinical examination, skin biopsies, and MRI of muscle were used. RESULTS: The phenotype was characterized by neonatal hypotonia, contractures, and delayed motor development followed by resolution...

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Identifiers

PMID: 29342313
DOI: 10.1002/mus.26067

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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