Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior.

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作者： Zahra,Nouri ^[1] ; Akram,Sarmadi ^[2] ; Sina,Narrei ^[3] ; Mohammadreza,Sehhati ^[4] ; Mohammad Amin,Tabatabaiefar ^[5]

作者单位： Department of Research and Development, ERYTHROGEN Medical Genetics Lab, Isfahan, Iran; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. ^[1] Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. ^[2] Department of Research and Development, ERYTHROGEN Medical Genetics Lab, Isfahan, Iran. ^[3] Department of Bioinformatics, School of Advanced Technologies in Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. ^[4] Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran; GenTArget Corp (GTaC), Deputy of Research and Technology, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address: tabatabaiefar@med.mui.ac.ir. ^[5]

关键词 Autism-like behaviors Congenital muscular dystrophy (CMD)Iran LAMA2 Pathogenic variants Whole exome sequencing (WES)