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Article

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

Acta neuropathologica communications - 29 Apr 2021

Madigan Nicolas N, Polzin Michael J, Cui Gaofeng, Liewluck Teerin, Alsharabati Mohammad H, Klein Christopher J, Windebank Anthony J, Mer Georges, Milone Margherita

Abstract excerpt

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 weakness. MYH2-myopathy is pathologically characterized by loss and atrophy of type 2A fibers. Additional myopathological...

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Identifiers

PMID: 33926564
DOI: 10.1186/s40478-021-01168-9
PMCID: PMC8082902

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