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- W3031820131 abstract "Distal myopathies encompass a group of hereditary or less commonly acquired disorders of skeletal muscles with predominant or selective weakness and wasting of the distal muscles. Although their clinical and histopathological heterogeneity often poses a diagnostic challenge, the detailed pattern of distal weakness, certain specific histopathological findings and associated clinical features can help guide the genetic test and eventually achieve the correct diagnosis [ [1] Milone M. Liewluck T. The unfolding spectrum of inherited distal myopathies. Muscle Nerve. 2019; 59: 283-294 Crossref PubMed Scopus (21) Google Scholar ]. We describe a case of childhood-onset refractory thrombocytopenia and early adult-onset distal weakness due to compound known and novel heterozygous mutations in GNE gene that encodes bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Thrombocytopenia has been rarely associated with GNE-myopathy. We discuss clinical and pathological characteristics of this rare myopathy, and extensively discuss about differential diagnosis of myopathies associated with thrombocytopenia." @default.
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- W3031820131 date "2020-08-01" @default.
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- W3031820131 title "Distal myopathy and thrombocytopenia due to a novel GNE mutation" @default.
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- W3031820131 doi "https://doi.org/10.1016/j.jns.2020.116954" @default.
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