A novel Xp11.22 –22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

ConclusionThe phenotypic similarities between this CCSMA case and XL ‐SMA prompt us to hypothesize a possible connection betweenUBA1 gene deficit and the pathogenesis of CCSMA. Our study is the first to demonstrate that CCSMA might have a genetic etiology, thus, expanding our insights into the underlying cause of CCSMA.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research