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Two novel mutations in TTN of a patient with congenital myopathy: A case report
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 enabled s...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687639/ https://ncbi.nlm.nih.gov/pubmed/31332964 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.866 |
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