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Article

A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders-Clinicohistologic Findings and Review of the Literature.

Journal of clinical neuromuscular disease - 1 Dec 2024

Mensch Alexander, Jordan Berit, Weis Joachim, Nikolin Stefan, Schneider Ilka, Abicht Angela, Gehling Stefanie, Kendzierski Thomas, Stoltenburg-Didinger Gisela, Stoevesandt Dietrich, Kraya Torsten, Zierz Stephan, Naegel Steffen

Abstract excerpt

BACKGROUND: Pathogenic variants in the nonmuscle myosin, MYH14, have been associated with several pathologic conditions including a complex phenotype with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Since its first description in a large Korean kindred, this rare neuromuscular disorder has further been characterized in 1 American and 1 Canadian pedigree. CASE PRESENTATION: Here, we describe a...

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PMID: 39590923
DOI: 10.1097/CND.0000000000000469

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