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

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ID: 270456
2021
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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 ...
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milone2021actafilamentous Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Nicolas N. Madigan, Michael J. Polzin, Gaofeng Cui, Teerin Liewluck, Mohammad H. Alsharabati, Christopher J. Klein, Anthony J. Windebank, Georges Mer, Margherita Milone;Nicolas N. Madigan;Michael J. Polzin;Gaofeng Cui;Teerin Liewluck;Mohammad H. Alsharabati;Christopher J. Klein;Anthony J. Windebank;Georges Mer;Margherita Milone;
Journal acta neuropathologica communications
Year 2021
DOI
10.1186/s40478-021-01168-9
URL
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082902/
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