Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance
Keywords: آتروفی عضلانی ستون فقرات دیستال; spinal muscular atrophy with lower extremity predominance; SMA-LED; distal spinal muscular atrophy; dSMA; whole exome sequencing; DYNC1H1; Charcot-Marie-Tooth;