Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

OBJECTIVE: To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene. METHODS: Patients with a phenotype suggestive of a motor, non–length-dependent...

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Publicat a:Neurology
Autors principals: Scoto, Mariacristina, Rossor, Alexander M., Harms, Matthew B., Cirak, Sebahattin, Calissano, Mattia, Robb, Stephanie, Manzur, Adnan Y., Martínez Arroyo, Amaia, Rodriguez Sanz, Aida, Mansour, Sahar, Fallon, Penny, Hadjikoumi, Irene, Klein, Andrea, Yang, Michele, De Visser, Marianne, Overweg-Plandsoen, W.C.G. (Truus), Baas, Frank, Taylor, J. Paul, Benatar, Michael, Connolly, Anne M., Al-Lozi, Muhammad T., Nixon, John, de Goede, Christian G.E.L., Foley, A. Reghan, Mcwilliam, Catherine, Pitt, Matthew, Sewry, Caroline, Phadke, Rahul, Hafezparast, Majid, Chong, W.K. “Kling”, Mercuri, Eugenio, Baloh, Robert H., Reilly, Mary M., Muntoni, Francesco
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4336105/
https://ncbi.nlm.nih.gov/pubmed/25609763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001269
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