Phenotype of patients with Charcot-Marie-Tooth with the p.His123Arg mutation in GDAP1 in northern Finland

• Main Authors: Lehtilahti, M. (Maria), Kallio, M. (Mika), Majamaa, K. (Kari), Kärppä, M. (Mikko)
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wolters Kluwer 2021
• Subjects: Charcot; Northern Finland
• Online Access: http://urn.fi/urn:nbn:fi-fe2022021418905

Abstract Background and Objectives: Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene cause autosomal dominant or autosomal recessive forms of Charcot-Marie-Tooth disease (CMT). Our aim was to study the clinical phenotype of patients with CMT caused by heterozygo...