Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease

• Main Authors: Sumaira Kanwal (Author), Yu JIn Choi (Author), Si On Lim (Author), Hee Ji Choi (Author), Jin Hee Park (Author), Rana Nuzhat (Author), Aneela khan (Author), Shazia Perveen (Author), Byung-Ok Choi (Author), Ki Wha Chung (Author)
• פורמט: ספר
• יצא לאור: BMC, 2021-06-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Charcot-Marie-Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies have identified genetic causes of CMT in the Pakistani patients. Methods This study was performed to identify pathogenic mutations in five con...