De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion
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- 作者：Sander Pajusalua ; b ; sander.pajusalu@kliinikum.ee" class="auth_mail" title="E-mail the corresponding author ; sanderpajusalu@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Inga Talvikc ; d ; Klari Noormetsd ; Tiina Talvikc ; d ; Haide Põ ; dere ; Kairit Joosta ; Sanna Puuseppa ; Andres Piirsoob ; Werner Stenzelf ; Hans H. Goebelf ; Tiit Nikopensiusg ; Tarmo Annilog ; Margit Nõ ; ukasg ; h ; Andres Metspalug ; h ; Katrin Õ ; unapa ; c ; Tiia Reimanda ; b ; c
- 关键词：MYH7 gene ; Fiber-type disproportion ; Myopathy ; Dropped head sign ; Whole exome sequencing ; Exon skipping
- 刊名：Neuromuscular Disorders
- 出版年：2016
- 出版时间：March 2016
- 年：2016
- 卷：26
- 期：3
- 页码：236-239
- 全文大小：1246 K
文摘
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We report a patient with congenital myopathy presenting in early infancy.
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Muscle biopsy showed fiber-type disproportion with no inclusions.
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Exome sequencing revealed a novel synonymous de novo mutation in MYH7 gene.
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RNA studies confirmed the mutation to cause skipping of exon 38.
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Genotypic and phenotypic spectra of MYH7-related myopathies are broadened.