Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease

The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low...

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Detalles Bibliográficos
Autores principales: Gonzalez‐Quereda, Lidia, Pagola, Inmaculada, Fuentes Prior, Pablo, Bernal, Sara, Rodriguez, Maria Jose, Torné, Laura, Salgado Garrido, Josefa, Gallano, Pia, Jericó, Ivonne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818229/
https://www.ncbi.nlm.nih.gov/pubmed/33275839
http://dx.doi.org/10.1002/acn3.51265

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