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

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

Abstract 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 proxim...

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Bibliographic Details
Main Authors: Nicolas N. Madigan, Michael J. Polzin, Gaofeng Cui, Teerin Liewluck, Mohammad H. Alsharabati, Christopher J. Klein, Anthony J. Windebank, Georges Mer, Margherita Milone
Format: Article
Language:English
Published: BMC 2021-04-01
Series:Acta Neuropathologica Communications
Subjects:
Congenital myopathy
MYH2
MyHC-IIA
Myosin heavy chain IIA
Nemaline rods
Sarcomeric protein aggregation
Online Access:https://doi.org/10.1186/s40478-021-01168-9

Internet

https://doi.org/10.1186/s40478-021-01168-9

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