Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation
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- 作者：Adele D’ ; Amico ; Claudio Graziano ; Giuseppe Pacileo ; Stefania Petrini ; Kristen J. Nowak ; Renata Boldrini ; Adam Jacques ; Juan-Juan Feng ; Berardino Porfirio ; Caroline A. Sewry et al.
- 关键词：Nemaline myopathy ; Hypertrophic cardiomyopathy ; ACTA1 ; Mutation
- 刊名：Neuromuscular Disorders
- 出版年：2006
- 出版时间：October 2006
- 年：2006
- 卷：16
- 期：9-10
- 页码：548-552
- 全文大小：719 K
文摘
We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a “de novo” missense heterozygous mutation a > g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28 % mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13 ± 3 % less than normal and the affinity of actin for the Z-line protein α-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.