Similar articles for PMID: 25772186

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1

Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.

Dabby R, Sadeh M, Hilton-Jones D, Plotz P, Hackman P, Vihola A, Udd B, Leshinsky-Silver E. Dabby R, et al. J Neurol Sci. 2015 Apr 15;351(1-2):120-123. doi: 10.1016/j.jns.2015.03.001. Epub 2015 Mar 6. J Neurol Sci. 2015. PMID: 25772186

2

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V. Harris E, et al. Neuromuscul Disord. 2017 Nov;27(11):1009-1017. doi: 10.1016/j.nmd.2017.06.013. Epub 2017 Jun 22. Neuromuscul Disord. 2017. PMID: 28716623

3

Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.

Wang G, Lv X, Xu L, Zhang R, Yan C, Lin P. Wang G, et al. Neurol Sci. 2022 May;43(5):3427-3433. doi: 10.1007/s10072-022-05979-z. Epub 2022 Mar 3. Neurol Sci. 2022. PMID: 35239051

4

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B. Charton K, et al. Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116. Epub 2015 Apr 15. Hum Mol Genet. 2015. PMID: 25877298

5

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B. Evilä A, et al. Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29. Mol Neurobiol. 2017. PMID: 27796757

6

Myositis or dystrophy? Traps and pitfalls.

Benveniste O, Romero NB. Benveniste O, et al. Presse Med. 2011 Apr;40(4 Pt 2):e249-55. doi: 10.1016/j.lpm.2010.11.023. Epub 2011 Mar 4. Presse Med. 2011. PMID: 21377315 Review.

7

Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.

Zheng W, Chen H, Deng X, Yuan L, Yang Y, Song Z, Yang Z, Wu Y, Deng H. Zheng W, et al. Mol Neurobiol. 2016 Oct;53(8):5097-102. doi: 10.1007/s12035-015-9439-0. Epub 2015 Sep 21. Mol Neurobiol. 2016. PMID: 26392295

8

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.

Unger A, Beckendorf L, Böhme P, Kley R, von Frieling-Salewsky M, Lochmüller H, Schröder R, Fürst DO, Vorgerd M, Linke WA. Unger A, et al. Acta Neuropathol Commun. 2017 Sep 15;5(1):72. doi: 10.1186/s40478-017-0474-0. Acta Neuropathol Commun. 2017. PMID: 28915917 Free PMC article.

9

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Khan A, Wang R, Han S, Umair M, Abbas S, Khan MI, Alshabeeb MA, Alfadhel M, Zhang X. Khan A, et al. BMC Med Genet. 2019 Oct 29;20(1):166. doi: 10.1186/s12881-019-0895-7. BMC Med Genet. 2019. PMID: 31664938 Free PMC article.

10

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P. Savarese M, et al. J Neuromuscul Dis. 2016 Aug 30;3(3):293-308. doi: 10.3233/JND-160158. J Neuromuscul Dis. 2016. PMID: 27854229 Free PMC article. Review.

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