Associated Papers
Poor Outcome of the p.Ser43Asn TTR Variant Causing Hereditary Transthyretin Amyloidosis in Korea.
An SY et al.
International Journal of Heart Failure, 2025
A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).
Yavaş C et al.
Genes & Genomics, 2024
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.
Wang G et al.
Journal of Human Genetics, 2023
TNNT1 myopathy with novel compound heterozygous mutations.
Lee S et al.
Neuromuscular Disorders : Nmd, 2022
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