LMNA
lamin A/C
Ассоциированные заболевания
Герминативная мутация (причина)18
Heart-hand syndrome, Slovenian typeORPHA:168796
→Familial isolated dilated cardiomyopathyORPHA:154
→Restrictive dermopathyORPHA:1662
→Congenital muscular dystrophy due to LMNA mutationORPHA:157973
→Familial partial lipodystrophy, Dunnigan typeORPHA:2348
→Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeORPHA:2229
→Hutchinson-Gilford progeria syndromeORPHA:740
→Autosomal semi-dominant severe lipodystrophic laminopathyORPHA:280365
→LMNA-related cardiocutaneous progeria syndromeORPHA:363618
→Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantORPHA:293910
→Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantORPHA:293899
→Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantORPHA:293888
→Familial dilated cardiomyopathy with conduction defect due to LMNA mutationORPHA:300751
→Mandibuloacral dysplasia with type A lipodystrophyORPHA:90153
→Atypical Werner syndromeORPHA:79474
→Autosomal dominant Emery-Dreifuss muscular dystrophyORPHA:98853
→Autosomal recessive Emery-Dreifuss muscular dystrophyORPHA:98855
→Charcot-Marie-Tooth disease type 2B1ORPHA:98856
→Основной фактор предрасположенности1
Часть слитого гена1