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- W2114879488 abstract "A patient is described with a novel syndrome characterised by progressive muscular weakness, contractures, pupillary muscle dysfunction, and skeletal deformity. The main myopathological feature was an abundance of tubular aggregates in both type I and type II muscle fibres. Myopathies in which tubular aggregates are the defining feature are rare and either present with progressive muscle weakness or exercise induced myalgia. Tubular aggregate myopathy with symptomatic smooth muscle dysfunction and skeletal deformities has not been described before." @default.
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- W2114879488 date "2002-09-01" @default.
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- W2114879488 title "Tubular aggregate myopathy with abnormal pupils and skeletal deformities" @default.
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- W2114879488 doi "https://doi.org/10.1136/jnnp.73.3.324" @default.
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