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

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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Bibliographic Details
Main Authors: Yurii S. Borovikov, Olga E. Karpicheva, Armen O. Simonyan, Stanislava V. Avrova, Elena A. Rogozovets, Vladimir V. Sirenko, Charles S. Redwood
Format: Article
Language:English
Published: MDPI AG 2018-12-01
Series:International Journal of Molecular Sciences
Subjects:
actin–myosin interaction
congenital myopathy
regulation of muscle contraction
mutation in tropomyosin
ATPase activity of myosin
muscle fiber
Ca<sup>2+</sup>-sensitivity
Online Access:https://www.mdpi.com/1422-0067/19/12/3975

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https://www.mdpi.com/1422-0067/19/12/3975

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