SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

OBJECTIVE: To describe the genetic and clinical features of a simplex patient with distal hereditary motor neuropathy (dHMN) and lower limb spasticity (Silver-like syndrome) due to a mutation in the sigma nonopioid intracellular receptor–1 gene (SIGMAR1) and review the phenotypic spectrum of mutatio...

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Detalles Bibliográficos
Autores principales: Horga, Alejandro, Tomaselli, Pedro J., Gonzalez, Michael A., Laurà, Matilde, Muntoni, Francesco, Manzur, Adnan Y., Hanna, Michael G., Blake, Julian C., Houlden, Henry, Züchner, Stephan, Reilly, Mary M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067545/
https://www.ncbi.nlm.nih.gov/pubmed/27629094
http://dx.doi.org/10.1212/WNL.0000000000003212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067545/
https://www.ncbi.nlm.nih.gov/pubmed/27629094
http://dx.doi.org/10.1212/WNL.0000000000003212

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