Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila

Missense mutations in the MYH3 gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal muscle contracture syndromes, Freeman Sheldon Syndrome (FSS) and Sheldon Hall Syndrome (SHS). Two residues in MyHC-embryonic that are most frequently mutated, leading t...

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Detalles Bibliográficos
Autores principales: Das, Shreyasi, Kumar, Pankaj, Verma, Aakanksha, Maiti, Tushar K., Mathew, Sam J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015705/
https://www.ncbi.nlm.nih.gov/pubmed/30826400
http://dx.doi.org/10.1016/j.ydbio.2019.02.017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015705/
https://www.ncbi.nlm.nih.gov/pubmed/30826400
http://dx.doi.org/10.1016/j.ydbio.2019.02.017

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