Associated Papers
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 2025
40369053 (PubMed )
Supplement: 41598_2025_1007_MOESM2_ESM.xlsx › Table_1C
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.
Yue D et al.
Neuromuscular Disorders : Nmd, 2015
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.
Pfeffer G et al.
Neuromuscular Disorders : Nmd, 2014
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