The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype - Candayan, Ayşe; Yunisova, Gulshan; Çakar, Arman; Durmuş, Hacer; Başak, A. Nazlı; Parman, Yeşim; Battaloğlu, Esra (Neurogenetics, 2020)
Keywords: Adolescent; Adult; Ataxia; Atrophy; Biomedical and Life Sciences; Biomedicine; Biopsy; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - pathology; Embryos; Family; Female; Frataxin; Genotype & phenotype; Heterozygosity; Homozygote; Human Genetics; Humans; Iron-Binding Proteins - genetics; Lethality; Male; Missense mutation; Molecular Medicine; Mutation; Mutation, Missense; Neurological diseases; Neurosciences; Optic nerve; Optic neuropathy; Pedigree; Phenotype; Phenotypes; Short Communication; Siblings; Turkey; Young Adult; Turkey; FRDA; Friedreich’s ataxia; FXN point mutation; CMT; Charcot-Marie-Tooth disease