Global Variome shared LOVD

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Phenotype #0000343709 Individual ID 00455117 Associated disease LGMD2 Phenotype details see paper; ..., dystrophic/inflammatory pattern; 1st muscle weakness pelvic-femoral girdles; muscle weakness pelvic-femoral girdles; still ambulant; contractures Achiles tendons; serum CK level 116 ukat/l; calf hypertrophy, pain of back muscles Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR1 Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) Age/Onset 3y Phenotype/Onset - Age/Diagnosis - Protein normal IHC; WB CAPN3 no 94, 60, 30 kDa, labelling on 45 kDa Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-01 20:00:32 +02:00 (CEST) Date last edited N/A

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