Abstract:Introduction: Mutations in genes-encoding collagen VI-a chain are known to cause congenital
muscular dystrophies, (CMDs). Aim: Screening for COL6A mutations in CMDs’ patients. Methods: WGS,
Sanger sequencing, plasmids-construction, Western-blot and RT-PCR. Results: Missense and novel
nonsense mutations in COL6A1 and COL6A2 were detected. The analysis revealed a decreased stability
of the COL6A mutants as compared to wild-type. Conclusion: Collagen related muscular dystrophies
may demonstrate the early presenta… Show more
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