Autosomal dominant centronuclear myopathy
ORPHA:169189DiseaseAutosomal dominantAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RYR1 | ryanodine receptor 1 | Candidate gene tested in | gene with protein product | 180901 |
| DNM2 | dynamin 2 | Disease-causing germline mutation(s) in | gene with protein product | 602378 |
| MYF6 | myogenic factor 6 | Candidate gene tested in | gene with protein product | 159991 |
| BIN1 | bridging integrator 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601248 |
| MTMR14 | myotubularin related protein 14 | Candidate gene tested in | gene with protein product | 611089 |
Фенотипы (HPO)30
Очень частый (80–99%)1
HP:0003687Centrally nucleated skeletal muscle fibers
Частый (30–79%)17
HP:0000508Ptosis
HP:0000883Thin ribs
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001436Abnormality of the foot musculature
HP:0001520Large for gestational age
HP:0001558Decreased fetal movement
HP:0001561Polyhydramnios
HP:0002194Delayed gross motor development
HP:0003458EMG: myopathic abnormalities
HP:0003803Type 1 muscle fiber predominance
HP:0004488Macrocephaly at birth
HP:0005268Spontaneous abortion
HP:0008180Mildly elevated creatine kinase
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
HP:0010546Muscle fibrillation
Периодический (5–29%)11
HP:0001048Cavernous hemangioma
HP:0002021Pyloric stenosis
HP:0002522Areflexia of lower limbs
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003477Peripheral axonal neuropathy
HP:0003738Exercise-induced myalgia
HP:0008981Calf muscle hypertrophy
HP:0012768Neonatal asphyxia
HP:0000020Urinary incontinence
HP:0000028Cryptorchidism
HP:0000544External ophthalmoplegia
Очень редкий (1–4%)1
HP:0002047Malignant hyperthermia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)