Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

被引：60

作者：

D'Amico, Adele

Graziano, Claudio

Pacileo, Giuseppe

Petrini, Stefania

Nowak, Kristen J.

Boldrini, Renata

Jacques, Adam

Feng, Juan-Juan

Porfirio, Berardino

Sewry, Caroline A.

Santorelli, Filippo M.

Limongelli, Giuseppe

Bertini, Enrico

Laing, Nigel

Marston, Steven B.

机构：

[1] Natl Heart & Lung Inst, Dept Cardiac Med, Imperial Coll London, London SW3 6LY, England

[2] Bambino Gesu Childrens Res Hosp, Dept Lab Med, Unit Mol Med & Pathol, Rome, Italy

[3] Univ Florence, Dept Clin Physiopathol, Human Genet Unit, Florence, Italy

[4] S Orsola M Malpighi Hosp, Inst Med Genet, Bologna, Italy

[5] Seconda Univ, Dept Cardiol, Naples, Italy

[6] AO Monaldi Napoli, Naples, Italy

[7] Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia

[8] Robert Jones & Agnes Hunt Orthopaed & Dist Hosp, Oswestry, Shrops, England

来源：

NEUROMUSCULAR DISORDERS | 2006年 / 16卷 / 9-10期

基金：

英国医学研究理事会;

关键词：

nemaline myopathy; hypertrophic cardiomyopathy; ACTA1; mutation;

D O I：

10.1016/j.nmd.2006.07.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 alpha-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation. (C) 2006 Elsevier B.V. All rights reserved.

引用

页码：548 / 552

页数：5

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