Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review

BACKGROUND: IGHMBP2 is a crucial gene for the development and maintenance of the nervous system, especially in the survival of motor neurons. Mutations in this gene have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth disease type 2S (CM...

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Detalles Bibliográficos
Autores principales: Tian, Yuan, Xing, Jinfang, Shi, Ying, Yuan, Enwu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690808/
https://www.ncbi.nlm.nih.gov/pubmed/38046662
http://dx.doi.org/10.3389/fnins.2023.1252075

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690808/
https://www.ncbi.nlm.nih.gov/pubmed/38046662
http://dx.doi.org/10.3389/fnins.2023.1252075

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