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Article

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

Journal of pediatric orthopedics - 1 Feb 2023

Silverstein Rachel S, Wang Daniel D, Haruno Lee S, Lotze Timothy E, Scott Allison C, Rosenfeld Scott B

Abstract excerpt

BACKGROUND: Collagen VI-related myopathies with pathologic COL6A1, COL6A2, and COL6A3 variants manifest as a phenotypic continuum of rare disorders, including Bethlem myopathy (BM), characterized by early onset muscle weakness, proximal joint contractures, and distal joint laxity. Herein we discuss the concomitant orthopedic manifestations of BM, potential management strategies, and patient outcomes. METHODS: An...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36607927
DOI: 10.1097/BPO.0000000000002283

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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