Global Variome shared LOVD

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Phenotype #0000284033 Individual ID 00390496 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; normal milestones, 25y-walking supported; contractures ankle; no intellectual disability; no seizures; CK level 1799 IU/L; EMG myogenic; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset weakness lower limbs, abnormal walking gait 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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