Cargando…
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance
Autores principales: | Niu, Qi, Wang, Xingxia, Shi, Mingchao, Jin, Qingwen |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807905/ https://www.ncbi.nlm.nih.gov/pubmed/27066557 http://dx.doi.org/10.1212/NXG.0000000000000017 |
Ejemplares similares
-
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation
por: Mei, Yazhao, et al.
Publicado: (2023) -
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report
por: Derksen, Alexa, et al.
Publicado: (2021) -
Digital necrosis in an infant with severe spinal muscular atrophy
por: Carrasco, Diana, et al.
Publicado: (2019) -
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey
por: Coratti, Giorgia, et al.
Publicado: (2023) -
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
por: Vig, Anjali, et al.
Publicado: (2020)