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pubmed-article:11061256pubmed:abstractTextTo determine the cause and pathogenic mechanisms of a 21-year-old patient's cardioskeletal myopathy. The patient's muscle atrophy and weakness began in distal parts of limbs; cardiac and facial muscles were later involved.lld:pubmed
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pubmed-article:11061256pubmed:articleTitleA novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.lld:pubmed
pubmed-article:11061256pubmed:affiliationFirst Department of Internal Medicine, Akita University School of Medicine, Hondo, Japan. masashir@med.akita-u.ac.jplld:pubmed
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