Global Variome shared LOVD

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Phenotype #0000314426 Individual ID 00423222 Associated disease MYOP Phenotype details diaphragmatic weakness with dyspnea; onset respiratory failure with respiratory arrest; dyspnea, patient on non-invasived respiratory support; normal muscle strength, only diaphragmatic weakness; normal gait; normal motor development; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; hypertorophic cardiomyopathy; no GI involvement; CK normal Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset 45y Phenotype/Onset respiratory failure with respiratory arrest Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-11 16:50:26 +01:00 (CET) Date last edited N/A

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