Ontology highlight
ABSTRACT:
SUBMITTER: Velilla J
PROVIDER: S-EPMC6454305 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Velilla Jose J Marchetti Michael Mario MM Toth-Petroczy Agnes A Grosgogeat Claire C Bennett Alexis H AH Carmichael Nikkola N Estrella Elicia E Darras Basil T BT Frank Natasha Y NY Krier Joel J Gaudet Rachelle R Gupta Vandana A VA
Neurology. Genetics 20190307 2
<h4>Objective</h4>To identify the genetic cause of disease in a form of congenital spinal muscular atrophy and arthrogryposis (CSMAA).<h4>Methods</h4>A 2-year-old boy was diagnosed with arthrogryposis multiplex congenita, severe skeletal abnormalities, torticollis, vocal cord paralysis, and diminished lower limb movement. Whole-exome sequencing (WES) was performed on the proband and family members. In silico modeling of protein structure and heterologous protein expression and cytotoxicity assay ...[more]