Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy

OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the li...

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Detalles Bibliográficos
Autores principales: Lewis-Smith, D.J., Duff, J., Pyle, A., Griffin, H., Polvikoski, T., Birchall, D., Horvath, R., Chinnery, P.F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089436/
https://www.ncbi.nlm.nih.gov/pubmed/27830184
http://dx.doi.org/10.1212/NXG.0000000000000110

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089436/
https://www.ncbi.nlm.nih.gov/pubmed/27830184
http://dx.doi.org/10.1212/NXG.0000000000000110

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