DNAJB2‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening

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 wi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314055/
https://www.ncbi.nlm.nih.gov/pubmed/35286755
http://dx.doi.org/10.1111/ene.15326

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