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Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2

BACKGROUND: Myosin heavy chain (MyHC) isoforms define the three major muscle fiber types in human extremity muscles. Slow beta/cardiac MyHC (MYH7) is expressed in type 1 muscle fibers. MyHC IIa (MYH2) and MyHC IIx (MYH1) are expressed in type 2A and 2B fibers, respectively. Whereas recessive MyHC II...

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Detalles Bibliográficos
Autores principales:	Hedberg-Oldfors, Carola, Elíasdóttir, Ólöf, Geijer, Mats, Lindberg, Christopher, Oldfors, Anders
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664609/ https://www.ncbi.nlm.nih.gov/pubmed/36380287 http://dx.doi.org/10.1186/s12883-022-02935-4

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