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...

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Bibliographic Details
Main Authors: Joon Young Jang, Yulhyun Park, Dae‐Hyun Jang, Ja‐Hyun Jang, Ju Seok Ryu
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
TTN
Online Access:https://doi.org/10.1002/mgg3.866