Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

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• 作者：Ana Ferná ; ndez-Marmiessep>ap>p> ; p>p>bp>p> ; p>p>&dagger ; p>p> ; p>p>amarmiesse@gmail.comp> ; M. Carmen Carrascosa-Romerop>cp>p> ; p>p>&dagger ; p> ; Blanca Alfaro Poncep>dp> ; Andres Nascimentop>ep> ; Carlos Ortezp>ep> ; Norma Romerop>fp> ; Lourdes Palaciosp>gp> ; Cecilia Jimenez-Mallebrerap>bp>p> ; p>p>ep> ; Cristina Joup>bp>p> ; p>p>hp> ; Sofí ; a Gouveiap>ap> ; Marí ; a L. Coucep>ap>p> ; p>p>bp>
• 关键词：TTN ; Arthrogryposis multiplex congenita ; Core myopathy ; Prenatally expressed isoform ; Isodisomy
• 刊名：Neuromuscular Disorders
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：27
• 期：2
• 页码：188-192
• 全文大小：2815 K
• 卷排序：27

文摘

Mutation expressed only in the fetal TTN isoform as cause of arthrogryposis multiplex congenita and core myopathy This finding expands the phenotypic spectrum of the TTN gene Its pathogenicity is supported by evidence of maternal isodisomy for chromosome 2