Article

Mutation Profile of Collagen VI-Related Myopathy in Japan

2021-01-14

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Collagen VI-related myopathy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by mutations in <italic>COL6A1</italic>,<italic> COL6A2</italic>, or <italic>COL6A3</italic>. Most reported mutations are <italic>de novo</italic>; therefore, to identify possible associated mutations, compr...

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Literature Corpus work: 8e214fec-3bbb-5f00-8b37-a289303a7016
DOI: 10.21203/rs.3.rs-144076/v1

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