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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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Yu, Meng, Zhu, Ying, Xie, Zhiying, Zheng, Yiming, Xiao, Jiangxi, Zhang, Wei, Nishino, Ichizo, Yuan, Yun, Wang, Zhaoxia
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6649615/
https://ncbi.nlm.nih.gov/pubmed/31353864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50831
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