Global Variome shared LOVD

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Phenotype #0000357730 Individual ID 00472935 Associated disease LGMD Phenotype details sporadic case, frequent falling since child hood, mild waddling gait, lower muscle weakness, positive Gower s sign, calf pseudohypertrophy, elevated CPK, early stage of muscular dystrophy reported in muscle biopsy and irritable myopathy reported in EMG. Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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