Article
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
European journal of neurology - 1 Jul 2022
Saveri Paola, Magri Stefania, Maderna Emanuela, Balistreri Francesca, Lombardi Raffaella, Ciano Claudia, Moda Fabio, Garavaglia Barbara, Reale Chiara, Lauria Pinter Giuseppe, Taroni Franco, Pareyson Davide, Pisciotta Chiara
Abstract excerpt
BACKGROUND AND PURPOSE: Mutations in DNAJB2 are associated with autosomal recessive hereditary motor neuropathies/ Charcot-Marie-Tooth disease type 2 (CMT2). We describe an Italian family with CMT2 due to a homozygous DNAJB2 mutation and provide insight into the pathomechanisms. METHODS: Patients with DNAJB2 mutations were characterized clinically, electrophysiologically and by means of skin biopsy. mRNA and...
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