Two novel mutations in TTN of a patient with congenital myopathy: A case report.
Joon Young JangYulhyun ParkDae-Hyun JangJa-Hyun JangJu Seok RyuPublished in: Molecular genetics & genomic medicine (2019)
We propose that unbiased genomic sequencing can be helpful in screening patients with early-onset myopathy.