Global Variome shared LOVD

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Phenotype #0000284045 Individual ID 00390508 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; 1y1m-walk, 2y-run; lordosis; no intellectual disability; seizures; CK level 7000-20000 IU/L; MRI brain normal; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 11y1m (11 years, 1 month) Age/Diagnosis - Age/Onset 1y3m Phenotype/Onset hyperCKemia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-10 16:44:31 +01:00 (CET) Date last edited N/A

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