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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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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 |