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

Po-Jui HsuHorng-Dar WangYung-Che TsengShao-Wei PanBonifasius Putera SampurnaYuh-Jyh JongChiou-Hwa Yuh

Published in: Journal of biomedical science (2021)

These results demonstrate that TPM3(E151G) and TPM3(E151A) exhibit different pathogenicity, also have distinct gene regulatory profiles but the ion channels were downregulated in both mutants, and provides a potential mechanism of action of TPM3 pathophysiology. Our results shed a new light in the future development of potential treatment for TPM3-related CM.

Keyphrases

late onset
mouse model
risk assessment
staphylococcus aureus
cystic fibrosis
early onset
muscular dystrophy