Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report

BACKGROUND: The DYNC1H1 gene encodes a part of the dynamic protein, and the protein mutations may further affect the growth and development of neurons, resulting in degeneration of anterior horn cells of the spinal cord, and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-...

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Detalles Bibliográficos
Autores principales: Ding, Feng-Juan, Lyu, Gui-Zhen, Zhang, Victor Wei, Jin, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567516/
https://www.ncbi.nlm.nih.gov/pubmed/34786417
http://dx.doi.org/10.12998/wjcc.v9.i30.9302

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567516/
https://www.ncbi.nlm.nih.gov/pubmed/34786417
http://dx.doi.org/10.12998/wjcc.v9.i30.9302

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