TTN
titin
Ассоциированные заболевания
Герминативная мутация (причина)8
Autosomal recessive centronuclear myopathyORPHA:169186
→Familial isolated dilated cardiomyopathyORPHA:154
→Hereditary myopathy with early respiratory failureORPHA:178464
→Titin-related limb-girdle muscular dystrophy R10ORPHA:140922
→Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantORPHA:293910
→Early-onset myopathy with fatal cardiomyopathyORPHA:289377
→Tibial muscular dystrophyORPHA:609
→Early-onset autosomal recessive TTN-related distal myopathyORPHA:707983
→Disease-causing germline mutation(s) (loss of function) in4
Classic multiminicore myopathyORPHA:324604
→Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantORPHA:293899
→Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantORPHA:293888
→Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndromeORPHA:466921
→Основной фактор предрасположенности1