Global Variome shared LOVD

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Phenotype #0000284047 Individual ID 00390510 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; normal motor ability; contractures ankle; no intellectual disability; no seizures; CK level 1451 IU/L; MRI brain normal; EMG myogenic; UCG aortic and tricuspid regurgitation (mild) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset 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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