A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.

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第一作者： Haicui,Wang

第一单位： Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany.

作者： Haicui,Wang ^[1] ; Anne,Schänzer ^[2] ; Birgit,Kampschulte ^[3] ; Hülya-Sevcan,Daimagüler ^[4] ; Thushiha,Logeswaran ^[1] ; Hannah,Schlierbach ^[2] ; Jutta,Petzinger ^[5] ; Harald,Ehrhardt ^[3] ; Andreas,Hahn ^[4] ; Sebahattin,Cirak ^[4]

作者单位： Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany. ^[1] Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany. ^[2] Institute of Neuropathology, Justus Liebig University Giessen, Arndtsr.16, 35392, Giessen, Germany. ^[3] Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University, Giessen, Germany. ^[4] Department of Pediatric Cardiology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany. ^[5] Department of Child Neurology, Center of Child and Adolescent Medicine, Justus Liebig University Giessen, 35392, Giessen, Germany. ^[6] Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany. sebahattin.cirak@uk-koeln.de. ^[7] Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany. sebahattin.cirak@uk-koeln.de. ^[8]

主题词心肌疾病(Cardiomyopathies);人类(Humans);婴儿(Infant);男(雄)性(Male);肌张力过低(Muscle Hypotonia);肌蛋白质类(Muscle Proteins);肌(Muscles);突变(Mutation);肌病, 结构性, 先天性(Myopathies, Structural, Congenital);周围神经系统疾病(Peripheral Nervous System Diseases)

DOI 10.1186/s40478-018-0589-y

PMID 30157964

发布时间 2021-12-04

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Acta neuropathologica communications

2018年6卷1期

83页

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A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.

Acta neuropathologica communications

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Acta neuropathologica communications

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A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.

Acta neuropathologica communications

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Acta neuropathologica communications

相关期刊

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