RYR1
ryanodine receptor 1
Ассоциированные заболевания
Герминативная мутация (причина)10
Central core diseaseORPHA:597
→Autosomal recessive centronuclear myopathyORPHA:169186
→Malignant hyperthermia of anesthesiaORPHA:423
→Moderate multiminicore disease with hand involvementORPHA:178145
→Benign Samaritan congenital myopathyORPHA:324581
→Congenital myopathy with myasthenic-like onsetORPHA:424107
→Lethal multiple pterygium syndromeORPHA:33108
→King-Denborough syndromeORPHA:99741
→Congenital multicore myopathy with external ophthalmoplegiaORPHA:98905
→Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathyORPHA:700188
→Основной фактор предрасположенности1