Global Variome shared LOVD

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Phenotype #0000231600 Individual ID 00305754 Associated disease LGMD Phenotype details severe (MRC grade <3/5); lower limbs more severe than upper limbs; distal weakness; neck flexor weakness (HP:0003722); elevated serum CK (max. 413 IU/L); biopsy dystrophic; rimmed vacuole; inflammation Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 64y (64 years) Age/Diagnosis - Age/Onset 46y Phenotype/Onset - Protein IHC DMD absent/reduced　　 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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