Global Variome shared LOVD

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Phenotype #0000343713 Individual ID 00455121 Associated disease LGMD2 Phenotype details see paper; ..., dystrophic pattern; 1st muscle weakness biceps; muscle weakness shoulder girdle; still ambulant; no contractures Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR1 Inheritance Familial, autosomal recessive Age/Examination 61y (61 years) Age/Onset 43y Phenotype/Onset - Age/Diagnosis - Protein WB CAPN3 labelling on 94, 60, 30 kDa; IHC weak DYSF detection 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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