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Article

Causative variant profile of collagen VI-related dystrophy in Japan.

Orphanet journal of rare diseases - 24 Jun 2021

Inoue Michio, Saito Yoshihiko, Yonekawa Takahiro, Ogawa Megumu, Iida Aritoshi, Nishino Ichizo, Noguchi Satoru

Abstract excerpt

BACKGROUND: Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Most reported causative variants are de novo; therefore, to identify possible associated causative variants, comprehensive large cohort studies are required for different ethnicities. METHODS:...

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Identifiers

PMID: 34167565
DOI: 10.1186/s13023-021-01921-2
PMCID: PMC8223365

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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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