Tubular aggregate myopathy
ORPHA:2593DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ORAI1 | ORAI calcium release-activated calcium modulator 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 610277 |
| STIM1 | stromal interaction molecule 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 605921 |
| CASQ1 | calsequestrin 1 | Disease-causing germline mutation(s) in | gene with protein product | 114250 |
Фенотипы (HPO)9
Очень частый (80–99%)6
HP:0003326Myalgia
HP:0003394Muscle spasm
HP:0003458EMG: myopathic abnormalities
HP:0003473Fatigable weakness
HP:0030200Fatiguable weakness of proximal limb muscles
HP:0100301Muscle fiber tubular inclusions
Частый (30–79%)2
HP:0003557Increased variability in muscle fiber diameter
HP:0003687Centrally nucleated skeletal muscle fibers
Периодический (5–29%)1
HP:0003554Type 2 muscle fiber atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)