A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy
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Abstract 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 proxim...
LCC LCC:Neurology. Diseases of the nervous systemIdioma eng
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