Balkan Journal of Medical Genetics

SEVERE FORM OF SALIH MYOPATHY CAUSED BY COMBINATION OF TWO HETEROZYGOUS TTN MUTATIONS
Milojković M, Jarić M, Stojanović V, Barišić N, Kavečan I
*Corresponding Author: Assistant Milica Milojkovic, MD, PhD, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljkova 10, 21000 Novi Sad, Serbia; e-mail: milica.milojkovic@mf.uns.ac.rs
page: 73

REFERENCES

1. Chauveau C, Rowell J, Ferreiro A. A Rising Titan: TTN Review and Mutation Update. Human Mutation. 2014;35(9):1046–59. 2. Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, et al. Genotype–phenotype correlations in recessive titinopathies. Genetics in Medicine. 2020;22(12):2029–40. 3. Hackman P, Savarese M, Carmignac V, Udd B, Sa- lih MA. Salih Myopathy. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle; January 12, 2012. 4. Anandakrishnan P, Sivabalakrishnan J. Early presen- tation of cardiac dysfunction in Salih myopathy. Neu- romuscul Disord. 2021;31(1):S159. 5. Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007;61(4):340-51. 6. Madavi M, Mohsen- Pour N, Maleki M, Hesami M, Naderi N, Houshmand G, et al. Whole-exome se- quencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family. Cardiol Young. 2022;32(9):1462–7. 7. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013;81(14):1205-14. 8. Bönnemann CG, Wang CH, Quijano-Roy S, De- coninck N, Bertini E, Ferreiro A, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24(4):289-311. 9. Chauveau C, Bonnemann C, Julien C, Kho A, Marks H, Talim B, et al. Recessive TTN truncating muta- tions define novel forms of core myopathy with heart disease. Hum Molec Genet. 2014;23:980-91. 10. Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, et al. Congenital Titinopa- thy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018(6):1105-24. 11. Kadiri YE, Ratbi I, Lyahyai J, Sefiani A. M-line TTN Mutations in Salih Myopathy: Novel Biallelic Muta- tion and Review of the Literature [Internet]. Available from: https://scite.ai/reports/m-line-ttn-mutations-in- salih-OVEaaPAj. 12. Kadiri EY, Ratbi I, Sefiani A, Lyahyai J. Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature. Gene Re- ports. 2022(27):101587. 13. Subahi SA. Distinguishing Cardiac Features of a Nov- el Form of Congenital Muscular Dystrophy (Salih cmd). Pediatr Cardiol.2001;22(4):297–301.

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