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A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
Eur J Hum Genet. 2017 May;25(5):572-581. doi: 10.1038/ejhg.2017.16. Epub 2017 Mar 15.
Eur J Hum Genet. 2017.
PMID: 28295036
Free PMC article.
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.
Peric S, Stevanovic J, Johnson K, Kosac A, Peric M, Brankovic M, Marjanovic A, Jankovic M, Banko B, Milenkovic S, Durdic M, Bozovic I, Glumac JN, Lavrnic D, Maksimovic R, Milic-Rasic V, Rakocevic-Stojanovic V.
Peric S, et al. Among authors: glumac jn.
Acta Myol. 2019 Sep 1;38(3):163-171. eCollection 2019 Sep.
Acta Myol. 2019.
PMID: 31788660
Free PMC article.
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219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016.
Hackman P, Udd B, Bönnemann CG, Ferreiro A; Titinopathy Database Consortium.
Hackman P, et al.
Neuromuscul Disord. 2017 Apr;27(4):396-407. doi: 10.1016/j.nmd.2017.01.009. Epub 2017 Jan 16.
Neuromuscul Disord. 2017.
PMID: 28214268
No abstract available.
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