A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant
Keywords: SMA; spinal muscular atrophy; SMALED; spinal muscular atrophy - lower extremity, dominant; DYNC1H1; Dynein Cytoplasmic 1 Heavy Chain 1 gene; EMG; electromyography; Neuromuscular; Disease; Genetics;