Global Variome shared LOVD

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Phenotype #0000343682 Individual ID 00455090 Associated disease LGMD2 Phenotype details see paper; ..., dystrophic/inflammatory pattern, intersticium with presence of numerous eosinophils (eosinophilic myositis was suspected); 1st muscle weakness pelvic-femoral girdles; muscle weakness pelvic-femoral girdles; still ambulant; no contractures ; serum CK level 70 ukat/l Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR1 Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Onset 12y Phenotype/Onset - Age/Diagnosis - Protein normal IHC 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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