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Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype

The MYH2 gene encodes the skeletal muscle myosin heavy chain IIA (MyHC-IIA) isoform, which is expressed in the fast twitch type 2A fibers. Autosomal dominant or recessive pathogenic variants in MYH2 lead to congenital myopathy clinically featured by ophthalmoparesis and predominantly proximal weakne...

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Detalles Bibliográficos
Autores principales:	Madigan, Nicolas N., Polzin, Michael J., Cui, Gaofeng, Liewluck, Teerin, Alsharabati, Mohammad H., Klein, Christopher J., Windebank, Anthony J., Mer, Georges, Milone, Margherita
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082902/ https://www.ncbi.nlm.nih.gov/pubmed/33926564 http://dx.doi.org/10.1186/s40478-021-01168-9

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