Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3084731 | Pediatric Neurology | 2015 | 6 Pages |
Abstract
De novo mutations of DYNC1H1 have been found in individuals with autosomal dominant mental retardation with neuronal migration defects. Dominantly inherited mutations of DYNC1H1 have been reported to cause spinal muscular atrophy with predominance of lower extremity involvement and Charcot-Marie-Tooth type 2O. This is the first report of a de novo DYNC1H1 mutation associated with the spinal muscular atrophy with predominance of lower extremity phenotype with a spinal deformity (lumbar hemivertebrae). This case also demonstrates the power of next generation sequencing to discover de novo mutations on a genome-wide scale.
Related Topics
Life Sciences
Neuroscience
Developmental Neuroscience
Authors
Jaya MS, Soledad MD, Maria Emilia MD, Eric P. PhD, Sebahattin MD, Carolina MD,