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Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics

The troponin complex is a key regulator of muscle contraction. Multiple variants in skeletal troponin encoding genes result in congenital myopathies. TNNC2 has been implicated in a novel congenital myopathy, TNNI2 and TNNT3 in distal arthrogryposis (DA), and TNNT1 and TNNT3 in nemaline myopathy (NEM...

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Detalles Bibliográficos
Autores principales:	van de Locht, Martijn, Borsboom, Tamara C., Winter, Josine M., Ottenheijm, Coen A. C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8430961/ https://www.ncbi.nlm.nih.gov/pubmed/34502093 http://dx.doi.org/10.3390/ijms22179187

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