The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies

Point mutations in genes encoding isoforms of skeletal muscle tropomyosin may cause nemaline myopathy, cap myopathy (Cap), congenital fiber-type disproportion (CFTD), and distal arthrogryposis. The molecular mechanisms of muscle dysfunction in these diseases remain unclear. We studied the effect of...

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Detalles Bibliográficos
Autores principales: Borovikov, Yurii S., Karpicheva, Olga E., Simonyan, Armen O., Avrova, Stanislava V., Rogozovets, Elena A., Sirenko, Vladimir V., Redwood, Charles S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321504/
https://www.ncbi.nlm.nih.gov/pubmed/30544720
http://dx.doi.org/10.3390/ijms19123975

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321504/
https://www.ncbi.nlm.nih.gov/pubmed/30544720
http://dx.doi.org/10.3390/ijms19123975

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