These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. Kimber E; Tajsharghi H; Kroksmark AK; Oldfors A; Tulinius M Neurology; 2006 Aug; 67(4):597-601. PubMed ID: 16924011 [TBL] [Abstract][Full Text] [Related]
3. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. Li X; Jiang M; Han W; Zhao N; Liu W; Sui Y; Lu Y; Li J Gene; 2013 Sep; 527(2):630-5. PubMed ID: 23850728 [TBL] [Abstract][Full Text] [Related]
4. Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. Robinson P; Lipscomb S; Preston LC; Altin E; Watkins H; Ashley CC; Redwood CS FASEB J; 2007 Mar; 21(3):896-905. PubMed ID: 17194691 [TBL] [Abstract][Full Text] [Related]
5. Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. Li S; You Y; Gao J; Mao B; Cao Y; Zhao X; Zhang X BMC Med Genet; 2018 Oct; 19(1):179. PubMed ID: 30285720 [TBL] [Abstract][Full Text] [Related]
6. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Bonne G; Mercuri E; Muchir A; Urtizberea A; Bécane HM; Recan D; Merlini L; Wehnert M; Boor R; Reuner U; Vorgerd M; Wicklein EM; Eymard B; Duboc D; Penisson-Besnier I; Cuisset JM; Ferrer X; Desguerre I; Lacombe D; Bushby K; Pollitt C; Toniolo D; Fardeau M; Schwartz K; Muntoni F Ann Neurol; 2000 Aug; 48(2):170-80. PubMed ID: 10939567 [TBL] [Abstract][Full Text] [Related]
7. Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. Tajsharghi H; Kimber E; Holmgren D; Tulinius M; Oldfors A Neurology; 2007 Mar; 68(10):772-5. PubMed ID: 17339586 [TBL] [Abstract][Full Text] [Related]
8. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Tajsharghi H; Kimber E; Kroksmark AK; Jerre R; Tulinius M; Oldfors A Arch Neurol; 2008 Aug; 65(8):1083-90. PubMed ID: 18695058 [TBL] [Abstract][Full Text] [Related]
9. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Beck AE; McMillin MJ; Gildersleeve HI; Kezele PR; Shively KM; Carey JC; Regnier M; Bamshad MJ Am J Med Genet A; 2013 Mar; 161A(3):550-5. PubMed ID: 23401156 [TBL] [Abstract][Full Text] [Related]
10. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. Gurnett CA; Alaee F; Desruisseau D; Boehm S; Dobbs MB Clin Orthop Relat Res; 2009 May; 467(5):1195-200. PubMed ID: 19142688 [TBL] [Abstract][Full Text] [Related]
11. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. Ohlsson M; Quijano-Roy S; Darin N; Brochier G; Lacène E; Avila-Smirnow D; Fardeau M; Oldfors A; Tajsharghi H Neurology; 2008 Dec; 71(23):1896-901. PubMed ID: 19047562 [TBL] [Abstract][Full Text] [Related]
12. Tropomyosin in the groove? Molecular insights into an inherited myopathy. Chase PB J Physiol; 2007 Jun; 581(Pt 3):889. PubMed ID: 17525111 [No Abstract] [Full Text] [Related]
13. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
14. Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. Doolan A; Tebo M; Ingles J; Nguyen L; Tsoutsman T; Lam L; Chiu C; Chung J; Weintraub RG; Semsarian C J Mol Cell Cardiol; 2005 Feb; 38(2):387-93. PubMed ID: 15698845 [TBL] [Abstract][Full Text] [Related]
15. Myopathies associated with β-tropomyosin mutations. Tajsharghi H; Ohlsson M; Palm L; Oldfors A Neuromuscul Disord; 2012 Nov; 22(11):923-33. PubMed ID: 22749895 [TBL] [Abstract][Full Text] [Related]
16. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Hall JG; Reed SD; Greene G Am J Med Genet; 1982 Feb; 11(2):185-239. PubMed ID: 7039311 [TBL] [Abstract][Full Text] [Related]
17. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Calvo J; Funalot B; Ouvrier RA; Lazaro L; Toutain A; De Mas P; Bouche P; Gilbert-Dussardier B; Arne-Bes MC; Carrière JP; Journel H; Minot-Myhie MC; Guillou C; Ghorab K; Magy L; Sturtz F; Vallat JM; Magdelaine C Arch Neurol; 2009 Dec; 66(12):1511-6. PubMed ID: 20008656 [TBL] [Abstract][Full Text] [Related]
18. Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. Jarraya M; Quijano-Roy S; Monnier N; Béhin A; Avila-Smirnov D; Romero NB; Allamand V; Richard P; Barois A; May A; Estournet B; Mercuri E; Carlier PG; Carlier RY Neuromuscul Disord; 2012 Oct; 22 Suppl 2():S137-47. PubMed ID: 22980765 [TBL] [Abstract][Full Text] [Related]
19. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Jungbluth H; Zhou H; Hartley L; Halliger-Keller B; Messina S; Longman C; Brockington M; Robb SA; Straub V; Voit T; Swash M; Ferreiro A; Bydder G; Sewry CA; Müller C; Muntoni F Neurology; 2005 Dec; 65(12):1930-5. PubMed ID: 16380615 [TBL] [Abstract][Full Text] [Related]
20. A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. Vogt J; Al-Saedi A; Willis T; Male A; McKie A; Kiely N; Maher ER Clin Genet; 2020 Jun; 97(6):908-914. PubMed ID: 32092148 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]