期刊
NEUROMUSCULAR DISORDERS
卷 26, 期 3, 页码 236-239出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2015.11.011
关键词
MYH7 gene; Fiber-type disproportion; Myopathy; Dropped head sign; Whole exome sequencing; Exon skipping
资金
- Estonian Research Council [PUT355]
- EU Social Fund through the Estonian Research Council [IUT20-60]
- Development Fund of the University of Tartu (grant SP1GVARENG)
- European Regional Development Fund to the Centre of Excellence in Genomics (EXCEGEN) [3.2.0304.11-0312]
Here we report on a case of MYH7-related myopathy in a boy with early onset of muscular weakness and delayed motor development in infancy. His most affected muscles were neck extensors showing a dropped head sign, proximal muscles of lower limbs with positive Gower's sign, and trunk muscles. Brain and spinal cord MRI scans, echocardiography, and laboratory analyses including creatine kinase and lactate did not reveal any abnormalities. Muscle histopathology showed fiber-type disproportion. Whole exome sequencing of the parents-offspring trio revealed a novel de novo c.5655G>A p.(Ala1885=) synonymous substitution of the last nucleotide in exon 38 of the MYH7 gene. Further RNA investigations proved the skipping of exon 38 (p.1854_1885del). This is a first report of an exon-skipping mutation in the MYH7 gene causing myopathy. This report broadens both the phenotypic and genotypic spectra of MYH7-related myopathies. (C) 2016 Elsevier B.V. All rights reserved.
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