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Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the phenotypic variation of SMA led to controversy regarding the clinical entity of the disease, the genetic homogeneity of SMA was pr...

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Detalles Bibliográficos
Autores principales: Nishio, Hisahide, Niba, Emma Tabe Eko, Saito, Toshio, Okamoto, Kentaro, Takeshima, Yasuhiro, Awano, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418635/
https://www.ncbi.nlm.nih.gov/pubmed/37569314
http://dx.doi.org/10.3390/ijms241511939