Global Variome shared LOVD

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Phenotype #0000238337 Individual ID 00314549 Associated disease LGMD Phenotype details 19y-ambulant; 3,985; no lordosis; serum CK 2888-7,120 (U/L); EMG myopathic features Diagnosis/Initial limb girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 13y 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 2020-10-12 17:29:43 +02:00 (CEST) Date last edited N/A

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