Global Variome shared LOVD

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Phenotype #0000353088 Individual ID 00467936 Associated disease LGMD Phenotype details see paper; ..., EMG myogenic pattern; serum CK level 5680 IU/L; no loss Independent walking; no cardiac involvement; calf muscle hypertrophy; scapular winging; no contractures; no myalgia; no scoliosis; hyperlordosis; Proximal lower limb weakness; Proximal muscle weakness and hypotrophy in lower limbs, frequent falls, inability to walk on heels Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 10y 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 2025-11-03 21:05:11 +01:00 (CET) Date last edited N/A

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