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An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1
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Ewa Markiewicz et al.
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Disease severity in dominant Emery!Dreifuss is increased by mutations in both emerin and desmin proteins
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Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy
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