Global Variome shared LOVD

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Phenotype #0000343698 Individual ID 00455106 Associated disease LGMD2 Phenotype details see paper; ..., dystrophic pattern; 1st muscle weakness pelvic-femoral girdles; muscle weakness shoulder and pelvic-femoral girdles; still ambulant; contractures Achiles tendons; serum CK level 20 ukat/l; hyperlordosis, swelling of LL Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR1 Inheritance Familial, autosomal recessive Age/Examination 30y (30 years) Age/Onset 13y Phenotype/Onset - Age/Diagnosis - Protein WB CAPN3 no 94, 60, 30 kDa, labelling on 45 kDa; IHC DYSF deficiency 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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