Autosomal recessive centronuclear myopathy
ORPHA:169186DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TTN | titin | Disease-causing germline mutation(s) in | gene with protein product | 188840 |
| SPEG | striated muscle enriched protein kinase | Disease-causing germline mutation(s) in | gene with protein product | 615950 |
| RYR1 | ryanodine receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 180901 |
| BIN1 | bridging integrator 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601248 |
Фенотипы (HPO)36
Частый (30–79%)12
HP:0000218High palate
HP:0000278Retrognathia
HP:0001270Motor delay
HP:0001290Generalized hypotonia
HP:0002093Respiratory insufficiency
HP:0002515Waddling gait
HP:0003323Progressive muscle weakness
HP:0003391Gowers sign
HP:0003551Difficulty climbing stairs
HP:0003700Generalized amyotrophy
HP:0009046Difficulty running
HP:0010628Facial palsy
Периодический (5–29%)24
HP:0000160Narrow mouth
HP:0000193Bifid uvula
HP:0000276Long face
HP:0000411Protruding ear
HP:0000597Ophthalmoparesis
HP:0000602Ophthalmoplegia
HP:0000750Delayed speech and language development
HP:0001256Intellectual disability, mild
HP:0001260Dysarthria
HP:0001284Areflexia
HP:0001349Facial diplegia
HP:0001618Dysphonia
HP:0001654Abnormal heart valve morphology
HP:0001712Left ventricular hypertrophy
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0001999Abnormal facial shape
HP:0003273Hip contracture
HP:0003307Hyperlordosis
HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003687Centrally nucleated skeletal muscle fibers
HP:0003691Scapular winging
HP:0003803Type 1 muscle fiber predominance
HP:0100807Long fingers
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)