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Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene
Muscle & Nerve, 09/04/09
Hong D et al. – The authors identified an adPEO family with a novel C10orf2 gene mutation that manifested an age–dependent phenotype. It suggests that greater attention must be paid to cardiac abnormalities in the late stages of this disease.
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