Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in
COL6A2
Gene Causes Recessive UCMD
Rasha El Sherif,
Yoshihiko Saito,
Tomonari Awaya
et al.
Abstract:Objectives
Collagen VI–related myopathy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy, caused by genetic variants in
COL6A1
,
COL6A2
, and
COL6A3
genes. Our objective was to report a newly identified patient with the pathogenic variants restricted to a polyadenylation signal in the 3′-untranslated region, which have not been reported in hereditary muscle diseas… Show more
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