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Novel TTN mutations and muscle imaging characteristics in congenital titinopathy

OBJECTIVE: We present clinical features, muscle imaging findings, and genetic characteristics of five unrelated Chinese patients with congenital titinopathy, emphasizing the diagnostic role of muscle MRI. METHODS: Five patients who recessive titinopathies were recruited. All patients received muscle...

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Detalles Bibliográficos
Autores principales:	Yu, Meng, Zhu, Ying, Xie, Zhiying, Zheng, Yiming, Xiao, Jiangxi, Zhang, Wei, Nishino, Ichizo, Yuan, Yun, Wang, Zhaoxia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649615/ https://www.ncbi.nlm.nih.gov/pubmed/31353864 http://dx.doi.org/10.1002/acn3.50831

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