Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1

Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in...

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Detalles Bibliográficos
Autores principales: Vanoli, Fiammetta, Rinchetti, Paola, Porro, Francesca, Parente, Valeria, Corti, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568910/
https://www.ncbi.nlm.nih.gov/pubmed/26095024
http://dx.doi.org/10.1111/jcmm.12606

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568910/
https://www.ncbi.nlm.nih.gov/pubmed/26095024
http://dx.doi.org/10.1111/jcmm.12606

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