Global Variome shared LOVD

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Phenotype #0000231703 Individual ID 00305857 Associated disease LGMD Phenotype details severe (MRC grade <3/5); lower limbs more severe than upper limbs; distal weakness; neck flexor weakness (HP:0003722); scapular winging; elevated serum CK (max. 712 IU/L); biopsy myopathic; rimmed vacuole; 　 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite NM Age/Examination 40y (40 years) Age/Diagnosis - Age/Onset 30y 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 2020-07-02 12:45:49 +02:00 (CEST) Date last edited N/A

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