Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light

Charcot-Marie-Tooth disease (CMT) is a heterogeneous set of hereditary neuropathies whose genetic causes are not fully understood. Here, we characterize three previously unknown variants in PMP22 and assess their effect on the recently described potential CMT biomarkers’ growth differentiation facto...

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Detalles Bibliográficos
Autores principales: Palu, Edouard, Järvilehto, Julius, Pennonen, Jana, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Isohanni, Pirjo, Tyynismaa, Henna, Auranen, Mari, Ylikallio, Emil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545620/
https://www.ncbi.nlm.nih.gov/pubmed/37606798
http://dx.doi.org/10.1007/s10048-023-00729-5

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