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Tipo de patología: Enfermedad del sistema respiratorio
Sinónimos: Paramiotonía congénita
Código CIE : G71.1
Prevalencia: <1-9 / 1 000 000
Código ORPHA: 684 Paramiotonía congénita de Von Eulenburg
Código OMIM: 168300
Está causado por mutaciones en el gen que codifica la subunidad alfa del canal de sodio dependiente de voltaje (SCN4A; 17q23.3).
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