Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progressive weakness, and muscle wasting in humeroperoneal muscles, and adult-onset cardiomyopathy with conduction block. We analyzed blood samples from an EDMD family, including a mother and two daughters, and found a novel mutation in codon 520 in exon 9 of the lamin A/C (LMNA) gene, resulting in a substitution of tryptophan (W) by glycine (G) in all three patients. The mother died after a stroke-like episode at the age of 43. The elder sister received pacemaker implantation, which improved symptoms of exercise intolerance and dizziness. These cases illustrate the necessity of correct diagnosis, evaluation, and follow-up of cardiac problems due to the wide clinical spectrum and high prevalence of cardiac conduction block in patients with autosomal dominant EDMD.
Liang
Wen-Chen
WC
Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Yuo
Chung-Yee
CY
Liu
Chun-Ya
CY
Lee
Chee-Siong
CS
Goto
Kanako
K
Hayashi
Yukiko K
YK
Jong
Yuh-Jyh
YJ
D000293:Adolescent; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation
D034904:Lamin Type A