Global Variome shared LOVD

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Phenotype #0000153618 Individual ID 00205437 Associated disease LGMD1 Phenotype details proximal predominant weakness legs, mildly waddling gait; elevated serum creatine phosphokinase (HP:0003236) 543; still walking >37y Diagnosis/Initial limb-girdle muscular dystrophy, autosomal dominant Inheritance Familial, autosomal dominant Diagnosis/Definite LGMD-1E Age/Examination - Age/Diagnosis - Age/Onset 32y Phenotype/Onset difficulty climbing stairs, rising from a sitting position, myalgias Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-04-02 22:51:22 +02:00 (CEST) Date last edited N/A

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