Global Variome shared LOVD

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Phenotype #0000209313 Individual ID 00274370 Associated disease MD Phenotype details proximal muscle weakness, mild facial weakness, and contracture of ankle and cervical spine; muscle dystrophic pattern; elevated CK (321 IU/L); familial Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis 6y Age/Onset 1y6m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-12-30 09:59:36 +01:00 (CET) Date last edited N/A

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