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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
Using exome sequencing we searched for the genetic cause of autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARVC) in a Swedish family. A heterozygous C-to-T transition, c.1255C>T, p.Pro419Ser in the desmin gene on chromosome 2q35, was identified. Pre...
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| Main Authors: | , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group
2012
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3421124/ https://ncbi.nlm.nih.gov/pubmed/22395865 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.39 |
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