Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families - Asif, Muhammad; Chiou, Chien-Chun; Hussain, Malik Fiaz; Hussain, Manzoor; Sajid, Zureesha; Gulsher, Muhammad; Raheem, Afifa; Khan, Adil; Nasreen, Nasreen; Kloczkowski, Andrzej; Hassan, Mubashir; Iqbal, Furhan; et al. (DNA and cell biology, 2023)
Keywords: Charcot-Marie-Tooth Disease - genetics; Codon, Nonsense - genetics; Consanguinity; GTP Phosphohydrolases - genetics; Humans; Mitochondrial Proteins - genetics; Mutation; Neurodegenerative Diseases; Pakistan; Pedigree; Pakistan; Charcot–Marie–Tooth disease; consanguineous families; Pakistan; Sanger sequencing; WES