Causative variant profile of collagen VI-related dystrophy in Japan

Causative variant profile of collagen VI-related dystrophy in Japan

Abstract 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 p...

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Bibliographic Details
Main Authors: Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino, Satoru Noguchi
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Collagen VI-related dystrophy
Ullrich congenital muscular dystrophy
Bethlem myopathy
Sarcolemma-specific collagen VI deficiency
cDNA analysis
Online Access:https://doi.org/10.1186/s13023-021-01921-2

Internet

https://doi.org/10.1186/s13023-021-01921-2

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