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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Neurology
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2015
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi