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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:
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