Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland

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 heterozygous p.His1...

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Detalles Bibliográficos
Autores principales: Lehtilahti, Maria, Kallio, Mika, Majamaa, Kari, Kärppä, Mikko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8495501/
https://www.ncbi.nlm.nih.gov/pubmed/34632054
http://dx.doi.org/10.1212/NXG.0000000000000629

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