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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...
Những tác giả chính: | , , , , , , , , |
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Định dạng: | Online Bài viết Texto |
Ngôn ngữ: | English |
Được phát hành: |
John Wiley and Sons Inc.
2019
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Những chủ đề: | |
Truy cập trực tuyến: | 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 |