Generalized Hypotonia Revealing Spinal Muscular Atrophy Type 2: The First Case Reported From the Dominican Republic and a Review of the Literature

Spinal muscular atrophy (SMA) is a rare, inherited autosomal recessive disease. Histopathological shreds of evidence related to the condition have suggested degenerative changes at the level of the spinal cord and brain stem. Deletions or mutations in the survival motor neuron 1 (SMN1) gene are the...

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Detalles Bibliográficos
Autores principales: Blanco, Rubén, Pichardo, Jessie, Abdullah, Hassan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733768/
https://www.ncbi.nlm.nih.gov/pubmed/33329961
http://dx.doi.org/10.7759/cureus.11464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733768/
https://www.ncbi.nlm.nih.gov/pubmed/33329961
http://dx.doi.org/10.7759/cureus.11464

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