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...

Descripción completa

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

Internet

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

Ejemplares similares