Molecular and Functional Effects of a Splice Site Mutation in the MYL2 Gene Associated with Cardioskeletal Myopathy and Early Cardiac Death in Infants

The homozygous appearance of the intronic mutation (IVS6-1) in the MYL2 gene encoding for myosin ventricular/slow-twitch skeletal regulatory light chain (RLC) was recently linked to the development of slow skeletal muscle fiber type I hypotrophy and early cardiac death. The IVS6-1 (c403-1G>C) mut...

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Detalles Bibliográficos
Autores principales: Zhou, Zhiqun, Huang, Wenrui, Liang, Jingsheng, Szczesna-Cordary, Danuta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911367/
https://www.ncbi.nlm.nih.gov/pubmed/27378946
http://dx.doi.org/10.3389/fphys.2016.00240

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911367/
https://www.ncbi.nlm.nih.gov/pubmed/27378946
http://dx.doi.org/10.3389/fphys.2016.00240

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