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• W2079866281 abstract "Congenital myopathy related to mutations in myosin MyHC IIa gene (MYH2) is a rare neuromuscular disease. A single dominant missense mutation has been reported so far in a family in which the affected members had congenital joint contractures at birth, external ophthalmoplegia and proximal muscle weakness. Afterward only additional 4 recessive mutations have been identified in 5 patients presenting a mild non-progressive early-onset myopathy associated with ophthalmoparesis. We report a new de novo MYH2 missense mutation in a baby affected by a congenital myopathy characterized by severe dysphagia, respiratory distress at birth and external ophthalmoplegia. We describe clinical, histopathological and muscle imaging findings expanding the clinical and genetic spectrum of MYH2-related myopathy." @default.
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• W2079866281 date "2013-05-01" @default.
• W2079866281 modified "2023-10-18" @default.
• W2079866281 title "A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies" @default.
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• W2079866281 doi "https://doi.org/10.1016/j.nmd.2013.02.011" @default.
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