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A novel de novo mutation in Lamin A/C gene in Emery-Dreifuss Muscular Dystrophy patient with atrial paralysis: A case report


We present a 26 year old female Indonesian patient with full spectrum Emery Dreifuss Muscular Dystrophy (EDMD) characterized with contracture of elbows, heel cord and pelvic, muscle wasting and weakness and atrial paralysis, as rare cardiac findings in EDMD . A novel de novo pathogenic heterozygous missense mutation (NM_170707.3: c.122G>T, p.Arg41Leu) in exon 1 was detected. Preventing atrial paralytic patient from systemic embolism is important. Early diagnosis, intervention, targeted management and counseling are necessary for a better health and life quality of individuals with EDMD.

Credits: Chaerul Ahmad, Almira Zada, Mardlatillah Affani, Mohammad Iqbal, Erwan Martanto, Augustine Purnomowati, Toni M Aprami



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