Classic multiminicore myopathy
ORPHA:324604Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SELENON | selenoprotein N | Disease-causing germline mutation(s) in | gene with protein product | 606210 |
| TTN | titin | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 188840 |
| MYH7 | myosin heavy chain 7 | Disease-causing germline mutation(s) in | gene with protein product | 160760 |
Фенотипы (HPO)29
Очень частый (80–99%)1
HP:0003560Muscular dystrophy
Частый (30–79%)19
HP:0000218High palate
HP:0001290Generalized hypotonia
HP:0001508Failure to thrive
HP:0001620Abnormally high-pitched voice
HP:0002091Restrictive ventilatory defect
HP:0002194Delayed gross motor development
HP:0002421Poor head control
HP:0002650Scoliosis
HP:0002828Multiple joint contractures
HP:0002877Nocturnal hypoventilation
HP:0003306Spinal rigidity
HP:0003327Axial muscle weakness
HP:0003700Generalized amyotrophy
HP:0004322Short stature
HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness
HP:0005991Limited neck flexion
HP:0009058Increased muscle lipid content
HP:0030319Weakness of facial musculature
HP:0100295Muscle fiber atrophy
Периодический (5–29%)8
HP:0000303Mandibular prognathia
HP:0000308Microretrognathia
HP:0001385Hip dysplasia
HP:0001634Mitral valve prolapse
HP:0001635Congestive heart failure
HP:0001667Right ventricular hypertrophy
HP:0001708Right ventricular failure
HP:0001763Pes planus
Исключён (0%)1
HP:0030091Absent muscle fiber merosin
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)