Retrospective natural history of thymidine kinase 2 deficiency.
Caterina GaroneRobert W TaylorAndrés NascimentoJoanna PoultonCarl FratterCristina Domínguez-GonzálezJulie C EvansMariana LoosPirjo IsohanniAnu SuomalainenDipak RamM Imelda HughesRobert McFarlandEmanuele BarcaCarlos Lopez-GomezSandeep JayawantNeil D ThomasAdnan Y ManzurKarin KleinsteuberMiguel Angel MartinTimothy KerrGrainne S GormanEwen W SommervillePatrick F ChinneryMonika HoferChristoph KarchJeffrey RalphYolanda CámaraMarcos Madruga-GarridoJana Domínguez-CarralCarlos OrtezSonia EmperadorJulio MontoyaAnupam ChakrapaniJoshua F KrigerRobert SchoenakerBruce LevinJohn L P ThompsonYuelin LongShamima RahmanMaria Alice DonatiSalvatore DiMauroMichio HiranoPublished in: Journal of medical genetics (2018)
In TK2 deficiency, age at onset, rate of weakness progression and POS are important variables that define three clinical subtypes. Nervous system involvement often complicates the clinical course of the infantile-onset form while extraocular muscle and facial involvement are characteristic of the late-onset form. Our observations provide essential information for planning future clinical trials in this disorder.