Extension of the DNAJB2a isoform in a dominant neuromyopathy family

Recessive mutations in the DNAJB2 gene, encoding the J-domain co-chaperones DNAJB2a and DNAJB2b, have previously been reported as the genetic cause of progressive peripheral neuropathies, rarely involving pyramidal signs, parkinsonism and myopathy. We describe here a family with the first dominantly...

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Detalles Bibliográficos
Autores principales: Sarparanta, Jaakko, Jonson, Per Harald, Reimann, Jens, Vihola, Anna, Luque, Helena, Penttilä, Sini, Johari, Mridul, Savarese, Marco, Hackman, Peter, Kornblum, Cornelia, Udd, Bjarne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586202/
https://www.ncbi.nlm.nih.gov/pubmed/37070754
http://dx.doi.org/10.1093/hmg/ddad058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586202/
https://www.ncbi.nlm.nih.gov/pubmed/37070754
http://dx.doi.org/10.1093/hmg/ddad058

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