Global Variome shared LOVD

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Phenotype #0000231586 Individual ID 00305740 Associated disease LGMD Phenotype details severe (MRC grade <3/5); lower limbs and upper limbs equally affected; distal weakness; neck flexor weakness (HP:0003722); facial muscles affected; contractures; serum CK max. 160 IU/L; biopsy dystrophic; 　 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 2y 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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