Article
A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy.
BMC neurology - 18 Mar 2026
Zanotti Simona, Ronchi Dario, Napoli Laura, Ripolone Michela, Pagliarani Serena, Ciscato Patrizia, Bertolasi Letizia, Del Bo Roberto, Magri Francesca, Velardo Daniele, Comi Giacomo Pietro, Corti Stefania, Sciacco Monica
Abstract excerpt
BACKGROUND: Myosin heavy chain (MyHC)-related congenital myopathies display variable age of onset and clinical manifestations depending on the mutated isoform. Cardiomyopathy, ophthalmoplegia and primarily proximal weakness may be part of the clinical picture. CASE PRESENTATION: A 57-year-old male patient with a history of arterial hypertension and hyperferritinemia (thalassemic trait) began to experience lower...
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