Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency

Spinal muscular atrophy (SMA) is a spectrum of genetically and clinically heterogeneous diseases leading to the progressive degeneration of peripheric motor neurons with subsequent muscle weakness and atrophy. More than 95% of the cases of SMA are represented by homozygous mutations of the SMN1 gene...

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Detalles Bibliográficos
Autores principales: Axente, Mihaela, Shelby, Elena-Silvia, Mirea, Andrada, Sporea, Corina, Badina, Mihaela, Padure, Liliana, Ion, Daniela Adriana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Carol Davila University Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8321613/
https://www.ncbi.nlm.nih.gov/pubmed/34377212
http://dx.doi.org/10.25122/jml-2021-0147

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