Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism

Spinal muscular atrophy with respiratory distress type 1 (SMARD 1) is a rare autosomal recessive disease characterized by distal muscular atrophy and respiratory distress. It presents between six weeks and six months of age, with an eventual requirement of respiratory support. To date, no curative t...

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Detalles Bibliográficos
Autores principales: Cardenas, Juan, Cardenas, Jose, Lee, Andrew, Brown, Martha, Galan, Fernando, Scimeme, Jason, Labilloy, Anatalia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8609979/
https://www.ncbi.nlm.nih.gov/pubmed/34824924
http://dx.doi.org/10.7759/cureus.19006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8609979/
https://www.ncbi.nlm.nih.gov/pubmed/34824924
http://dx.doi.org/10.7759/cureus.19006

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