Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings

Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg–Welander disease) is the mildest childhood form and patients may become ambulatory and have a normal life expectancy. We report the clini...

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Detalles Bibliográficos
Autores principales: Pringle, Catherine Elizabeth, Nelson, Robert, Miller, Willie, Kothary, Rashmi, Michaud, Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653749/
https://www.ncbi.nlm.nih.gov/pubmed/33168084
http://dx.doi.org/10.1186/s40478-020-01063-9

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