Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.

This study not only broadens allelic spectrum of pathogenic COL6A3 variants in myopathy, but also gives an additional support to Ullrich congenital muscular dystrophy Bethlem myopathy clinical continuum. PMID: 29894794 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29894794?dopt=Abstract

Source: Gene - June 9, 2018 Category: Genetics & Stem Cells Authors: Marakhonov AV, Tabakov VY, Zernov NV, Dadali EL, Sharkova IV, Skoblov MY Tags: Gene Source Type: research

More News: Genetics | Muscular Dystrophy | Reflex Sympathetic Dystrophy | Study