Global Variome shared LOVD

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Phenotype #0000284038 Individual ID 00390501 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; 1y4m-walk; no contractures; no intellectual disability; no seizures; CK level 1940-32000 IU/L; MRI brain enlargement subarachnoid space; EMG-myogenic, neurogenic; ECG-normal; UCG-normal Diagnosis/Initial limb-girdle muscular dystrophy, mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 1y11m (1 year, 11 months) Age/Diagnosis - Age/Onset 4m 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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