A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis
2017; Volume: 9; Issue: 6 Linguagem: Inglês
10.4022/jafib.1511
ISSN1941-6911
AutoresChaerul Achmad, Almira Zada, Mardlatillah Affani, Mohammad Iqbal, Erwan Martanto, Augustine Purnomowati, Toni M. Aprami,
Tópico(s)RNA regulation and disease
ResumoWe 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 patients 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.www.jafib.com
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