Global Variome shared LOVD

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Phenotype #0000209312 Individual ID 00274369 Associated disease MD Phenotype details proximal muscle weakness, scoliosis and, contracture of ankle and knee joints; muscle dystrophic pattern with type I fiber predominance; CK 89 IU/L; ECG or echo normal; no family history Diagnosis/Initial muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis 34y Age/Onset 6y 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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