Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin μ‐binding protein 2, leading to progressive spinal motor neuron degeneration. We review the data available in t...

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Detalles Bibliográficos
Autores principales: Saladini, Matteo, Nizzardo, Monica, Govoni, Alessandra, Taiana, Michela, Bresolin, Nereo, Comi, Giacomo P., Corti, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991628/
https://www.ncbi.nlm.nih.gov/pubmed/31802621
http://dx.doi.org/10.1111/jcmm.14874

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991628/
https://www.ncbi.nlm.nih.gov/pubmed/31802621
http://dx.doi.org/10.1111/jcmm.14874

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