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Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series

BACKGROUND: Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first manifest in adulthood. Although spinal muscular...

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Detalles Bibliográficos
Autores principales: Setyaningrum, Cempaka Thursina Srie, Harahap, Indra Sari Kusuma, Nurputra, Dian Kesumapramudya, Ar Rochmah, Mawaddah, Sadewa, Ahmad Hamim, Alkarani, Giga Hasabi, Harahap, Nur Imma Fatimah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664805/
https://www.ncbi.nlm.nih.gov/pubmed/36376972
http://dx.doi.org/10.1186/s13256-022-03633-y