期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 307, 期 1-2, 页码 171-173出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2011.04.022
关键词
Nemaline myopathy; Hypertrophic cardiomyopathy; ACTA1
资金
- Medical Research Institute [2010-006]
- Pusan National University Hospital
A twenty-year old male presented with diffuse limb muscle weakness and exertional dyspnea since childhood. The diagnosis of nemaline myopathy was given based on the muscle pathology findings that revealed nemaline rods on light and electron microscopy and discovery of a novel mutation, E239K, in ACTA1. Incidentally, the patient had hypertrophic cardiomyopathy (HCM) as shown by echocardiography. In nemaline myopathy, a few cases of HCM have been reported, albeit rarely and always fatal, but only one patient had ACTA1 mutation. This present report describes an infantile onset of nemaline myopathy with a milder clinical course and non-fatal HCM as compared with previous cases, showing clinical diversity in skeletal and cardiac manifestations of conditions associated with ACTA] mutations. (C) 2011 Elsevier B.V. All rights reserved.
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