A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

We describe the neurological, electrophysiological, and genetic features of autosomal dominant distal hereditary motor neuronopathy (HMN) in a three-generation Dutch family, including 12 patients with distal muscle weakness and atrophy. The severity of disease ranged from disabling muscle weakness t...

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Detalles Bibliográficos
Autores principales: Brusse, Esther, Majoor-Krakauer, Danielle, de Graaf, Bianca M., Visser, Gerhard H., Swagemakers, Sigrid, Boon, Agnita J.W., Oostra, Ben A., Bertoli-Avella, Aida M.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758216/
https://www.ncbi.nlm.nih.gov/pubmed/19396477
http://dx.doi.org/10.1007/s10048-009-0193-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758216/
https://www.ncbi.nlm.nih.gov/pubmed/19396477
http://dx.doi.org/10.1007/s10048-009-0193-1

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