Two novel mutations in TTN of a patient with congenital myopathy: A case report
Abstract Background Early‐onset myopathies show a wide spectrum of phenotypes and are composed of various types of inherited neuromuscular diseases, making it difficult to diagnose. TTN mutation‐related myopathy is a known cause of early‐onset myopathy. Since a next‐generation sequencing (NGS) has e...
| Κύριοι συγγραφείς: | , , , , |
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| Μορφή: | Άρθρο |
| Γλώσσα: | English |
| Έκδοση: |
Wiley
2019-08-01
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| Σειρά: | Molecular Genetics & Genomic Medicine |
| Θέματα: | |
| Διαθέσιμο Online: | https://doi.org/10.1002/mgg3.866 |