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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Detalles Bibliográficos
Autores principales: Jang, Joon Young, Park, Yulhyun, Jang, Dae‐Hyun, Jang, Ja‐Hyun, Ryu, Ju Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687639/
https://www.ncbi.nlm.nih.gov/pubmed/31332964
http://dx.doi.org/10.1002/mgg3.866

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687639/
https://www.ncbi.nlm.nih.gov/pubmed/31332964
http://dx.doi.org/10.1002/mgg3.866

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