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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease emery dreifuss muscular dystrophy
Comorbidity C0878544|cardiomyopathy
Sentences 4
PubMedID- 19997769 How mutations in the protein emerin lead to the cardiomyopathy associated with x-linked emery-dreifuss muscular dystrophy (x-edmd) is unclear.
PubMedID- 22077867 Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with emery-dreifuss muscular dystrophy.
PubMedID- 24106506 Owing to the significant correlation between the tn-c level and lvdd, it was suggested as a new biomarker for detecting cardiomyopathy in patients with emery-dreifuss muscular dystrophy [21].
PubMedID- 25502304 Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1g>a.

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