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l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish

BACKGROUND: Congenital myopathy (CM) is a group of clinically and genetically heterogeneous muscle disorders, characterized by muscle weakness and hypotonia from birth. Currently, no definite treatment exists for CM. A de novo mutation in Tropomyosin 3-TPM3(E151G) was identified from a boy diagnosed...

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Detalles Bibliográficos
Autores principales: Hsu, Po-Jui, Wang, Horng-Dar, Tseng, Yung-Che, Pan, Shao-Wei, Sampurna, Bonifasius Putera, Jong, Yuh-Jyh, Yuh, Chiou-Hwa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802209/
https://www.ncbi.nlm.nih.gov/pubmed/33435938
http://dx.doi.org/10.1186/s12929-020-00707-1