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Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
Mutations in HSPB1 are one of the commonest causes of distal Hereditary Motor Neuropathy (dHMN). Transgenic mouse models of the disease have identified HDAC6 inhibitors as promising treatments for the condition paving the way for human trials. A detailed phenotype and natural history study of HSPB1...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pergamon Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260843/ https://www.ncbi.nlm.nih.gov/pubmed/27816334 http://dx.doi.org/10.1016/j.nmd.2016.10.001 |